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About 124 results
Rare Association of Dandy-Walker Malformation With a Giant Occipital Meningocele.
https://doi.org/10.1016/j.jogc.2019.09.027
Journal of ObstEtrics and Gynaecology Canada : JOGC = Journal D'obstEtrique Et Gynecologie Du Canada : JOGC; Rana A, Chawla D

Feb 9th, 2020 - Rare Association of Dandy-Walker Malformation With a Giant Occipital Meningocele.|2020|Rana A,Chawla D,|

Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly:...
https://doi.org/10.1002/jcu.22805
Journal of Clinical Ultrasound : JCU REFERENCES; Darouich S, Amraoui J et. al.

Dec 19th, 2019 - Dandy-Walker malformation (DWM) may occur as part of Mendelian disorders such as Walker-Warburg and Meckel-Gruber syndromes. We report a novel association with type III lissencephaly in a 22-week male fetus. Ultrasound showed fetal akinesia deformation sequence, single umbilical artery, microlissencephaly, hydranencephaly with cerebral lamination, DWM, and pontocerebellar hypoplasia. These abno...

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a f...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978243
Molecular Genetics & Genomic Medicine; Traversa A, Bernardo S et. al.

Nov 22nd, 2019 - Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation with US suspicion of familial Dandy-Walker spectrum malformation, using Next Generation Sequencing approach in prenatal diagnosis. Whole exome sequencing (WES) approach h...

Acute Promyelocytic Leukemia in a Child With Dandy-Walker Malformation: A Rare Associat...
https://doi.org/10.1097/MPH.0000000000001655
Journal of Pediatric Hematology/oncology; Kapoor R, Rastogi N et. al.

Nov 6th, 2019 - Acute Promyelocytic Leukemia in a Child With Dandy-Walker Malformation: A Rare Association.|2019|Kapoor R,Rastogi N,Yadav SP,|

Redefining the Etiologic Landscape of Cerebellar Malformations.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731369
American Journal of Human Genetics; Aldinger KA, Timms AE et. al.

Sep 2nd, 2019 - Cerebellar malformations are diverse congenital anomalies frequently associated with developmental disability. Although genetic and prenatal non-genetic causes have been described, no systematic analysis has been performed. Here, we present a large-exome sequencing study of Dandy-Walker malformation (DWM) and cerebellar hypoplasia (CBLH). We performed exome sequencing in 282 individuals from 10...

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registr...
https://doi.org/10.1159/000501238
Neuroepidemiology Santoro M, Coi A et. al.

Jul 15th, 2019 - Dandy-Walker (DW) malformation is a rare and severe congenital anomaly of the posterior fossa affecting the development of the cerebellum and the fourth ventricle. The aim of this study was to investigate the epidemiology of DW malformation, using data from the European population-based registries of congenital anomalies in the European Surveillance of Congenital Anomalies network. Anonymous in...

Basilar invagination in a child with atlanto-occipital subluxation and suspected prenat...
https://doi.org/10.1007/s00381-019-04164-6
Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery; Miura I, Aihara Y et. al.

May 18th, 2019 - Although advances in imaging have allowed earlier and more accurate diagnosis of various fetal anomalies, Dandy-Walker malformation (DWM) remains one of the more challenging central nervous system anomalies to diagnose accurately before birth. Basilar invagination (BI), which is a dislocation of the dens in an upward direction, is occasionally accompanied by Klippel-Feil syndrome (KFS). We repo...

Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an ...
https://doi.org/10.1002/ajmg.a.61145
American Journal of Medical Genetics. Part A; Zarate YA, Boccuto L et. al.

Apr 3rd, 2019 - Kosaki overgrowth syndrome is a recently described syndrome characterized by distinctive facial features, brain white matter lesions, and developmental delay. Germline activating heterozygous PDGFRB mutations have been reported in this condition. Systemic connective tissue-type findings have been described in some individuals. We describe a 19-year-old Caucasian female with a history of hydroce...

Neurocognitive profile of a man with Dandy-Walker malformation: evidence of subtle cere...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717685
The Clinical Neuropsychologist; Belser-Ehrlich J, Adrian Lafo J et. al.

Mar 1st, 2019 - The Dandy-Walker Malformation (DWM) is a congenital birth malformation that is characterized by a triad of features: cerebellar dysgenesis, cystic dilation of the fourth ventricle, and an enlarged posterior fossa that displaces the dural sinuses and the tentorium. Despite this defining triad, clinical presentation can be highly heterogeneous in part due to severity of structural changes. To dat...

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum o...
https://doi.org/10.1002/ajmg.a.61095
American Journal of Medical Genetics. Part A; McNiven V, Ito YA et. al.

Feb 18th, 2019 - Autosomal dominant Dandy-Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy-Walker spectrum of disorders. Affected individuals often present with an occipital cephalocele with a bony skull defect, but typically have normal neurological development. Here, we report on a three-generation ...

The first case of antenatal presentation in COG8-congenital disorder of glycosylation w...
https://doi.org/10.1002/ajmg.a.61030
American Journal of Medical Genetics. Part A; Arora V, Puri RD et. al.

Jan 28th, 2019 - Congenital disorders of glycosylation (CDG) are an extremely rapidly growing and phenotypically versatile group of disorders. Conserved oligomeric Golgi (COG) complexes are hetero-octameric proteins involved in retrograde trafficking within the Golgi. Seven of its eight subunits have a causal role in CDG. To date, only three cases of COG8-CDG have been published but none in the antenatal period...

Reversible intracranial hypertension following treatment of an extracranial vascular ma...
https://doi.org/10.3171/2018.10.PEDS18235
Journal of Neurosurgery. Pediatrics; Pricola Fehnel K, Klein J et. al.

Jan 5th, 2019 - Pediatric hydrocephalus is a well-studied and still incompletely understood entity. One of the physiological means by which hydrocephalus and intracranial hypertension evolve is through perturbations to normal vascular dynamics. Here the authors report a unique case of an extracranial vascular anomaly resulting in persistently elevated intracranial pressures (ICPs) independent of CSF diversion ...

Differential Diagnoses and Their Implications of Dandy-Walker Malformation or Isolated ...
https://doi.org/10.1891/0730-0832.37.6.358
Neonatal Network : NN; Weaver NL, Bradshaw WT et. al.

Dec 20th, 2018 - We explore the outcome of a fetus with a posterior fossa abnormality thought to be a Dandy-Walker malformation based on prenatal ultrasound imaging. The infant was later diagnosed by magnetic resonance imaging (MRI) as having an isolated cisterna magna. When assessing brain abnormalities, there is increased accuracy of prenatal MRI versus prenatal ultrasound. Accurate diagnosis of an infant is ...

Dandy-Walker variant with precocious puberty: a rare association.
https://doi.org/10.1136/bcr-2018-226281
BMJ Case Reports; Rajput R, Mishra S et. al.

Dec 20th, 2018 - Precocious puberty is characterised by premature appearance of secondary sexual characteristics before the age of 7 years in girls and 9 years in boys. Dandy-Walker malformation comprises a spectrum of intracranial malformations of the posterior fossa. We present a case of a 7-year-old male child who has presented with features of central precocious puberty and on further evaluation has been fo...

Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.
https://doi.org/10.17458/per.vol16.2018.ellisvananddandywaler
Pediatric Endocrinology Reviews : PER; Boujtat K, Rouf S et. al.

Dec 16th, 2018 - Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC...

Management of hydrocephalus in infants with severe hemophilia A: report of 2 cases.
https://doi.org/10.3171/2018.8.PEDS18409
Journal of Neurosurgery. Pediatrics; Bergin SM, Dunn AL et. al.

Nov 29th, 2018 - The authors report on the clinical course of two infants with severe hemophilia A (HA) and concomitant progressive hydrocephalus that required management with a ventriculoperitoneal shunt. The first child, with known HA, presented with a spontaneous intracranial hemorrhage and acquired hydrocephalus. He underwent cerebrospinal fluid diversion with a temporary external ventricular drain, followe...

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malform...
https://doi.org/10.1016/j.ejmg.2018.10.018
European Journal of Medical Genetics; Vandervore LV, Schot R et. al.

Nov 5th, 2018 - Heterozygous gain of function mutations in the ZIC1 gene have been described with syndromic craniosynostosis, variable cerebral or cerebellar abnormalities and mild to moderate developmental delay. Deletion of chromosome 3q25.1 including both adjacent ZIC1 and ZIC4 genes have been described as a cause of variable cerebellar abnormalities including Dandy-Walker malformation. We report two siblin...

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney an...
https://doi.org/10.1136/jmedgenet-2018-105421
Journal of Medical Genetics; Shalata A, Lauhasurayotin S et. al.

Oct 17th, 2018 - Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown. To identify the mutated gene responsible for Dandy-Walker malformation, kidney d...

The Impact of Prenatal Diagnosis of Selected Central Nervous System Anomalies for Prena...
https://doi.org/10.1016/j.jogc.2018.03.130
Journal of ObstEtrics and Gynaecology Canada : JOGC = Journal D'obstEtrique Et Gynecologie Du Canada : JOGC; Morton CC, Metcalfe A et. al.

Oct 14th, 2018 - Prenatal screening and diagnostic imaging advances have led to an increased detection of CNS anomalies, including ventriculomegaly/congenital hydrocephalus (HCP), Dandy-Walker malformation (DWM), and myelomeningocele (MMC). Data on pregnancy outcomes and the impact of prenatal diagnosis on neonatal outcomes is limited. Our study aimed to provide data on obstetric and neonatal outcomes following...

Hindbrain morphometry and choroid plexus position in differential diagnosis of posterio...
https://doi.org/10.1002/uog.20120
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology; Paladini D, Donarini G et. al.

Sep 12th, 2018 - To assess the differential diagnostic significance of a series of quantitative and qualitative variables of the cerebellar vermis in fetuses with posterior fossa cystic malformation, including Dandy-Walker malformation (DWM), vermian hypoplasia (VH) and Blake's pouch cyst (BPC). This was a retrospective study of confirmed cases of DWM, VH and BPC, diagnosed at the Fetal Medicine and Surgery Uni...

Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in Pati...
https://doi.org/10.1016/j.wneu.2018.05.249
World Neurosurgery; Miao TL, Joswig H et. al.

Jun 11th, 2018 - Intradiploic cerebrospinal fluid cysts are rare entities that have been reported to occur following trauma and surgery. We present a case of a 53-year-old female patient with an incidental intradipoloic cerebrospinal fluid cyst in communication with a Dandy-Walker malformation, likely related to a remote history of childhood surgery for occipital encephalocele.

Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an ...
https://doi.org/10.1007/s10048-018-0548-6
Neurogenetics Yang CA, Chou IC et. al.

May 30th, 2018 - Dandy-Walker malformation (DWM) has been reported to have heterogeneous causes, including mutations in genes of fibroblast growth factors and in genes in the sonic hedgehog (Shh) signaling pathway. Here, we identified an activating cancerous inhibitor of protein phosphatase 2A (CIP2A) p.D269V mutation, located at the predicted protein-protein interaction groove, as a novel genetic cause of Dand...

Imaging in Dandy-Walker Malformation 
https://emedicine.medscape.com/article/408059-print

Mar 26th, 2018 - Dandy-Walker malformation is a rare congenital malformation that involves the cerebellum and fourth ventricle. Dandy-Walker malformation is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be present, but Dandy-Walker malformation is recognized whenever ...

Imaging in Dandy-Walker Malformation 
https://emedicine.medscape.com/article/408059-overview

Mar 26th, 2018 - Practice Essentials Dandy-Walker malformation is a rare congenital malformation that involves the cerebellum and fourth ventricle. Dandy-Walker malformation is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be present, but Dandy-Walker malformation is ...

Dandy-Walker malformation and syringomyelia: a rare association.
https://doi.org/10.1007/s00381-018-3773-2
Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery; Baro V, Manara R et. al.

Mar 13th, 2018 - Dandy-Walker malformation is a rare condition due to imperforation of the Blake's pouch during intrauterine brain development, usually leading to early severe hydrocephalus. The association with holocord syringomyelia is rare, and from the Gardner's first report in 1957, only 23 cases have been described, mostly from autopsy series and pre-MRI period. Besides a worsening of clinical picture, it...

ZIC1 Function in Normal Cerebellar Development and Human Developmental Pathology.
https://doi.org/10.1007/978-981-10-7311-3_13
Advances in Experimental Medicine and Biology; Aruga J, Millen KJ

Feb 14th, 2018 - Zic genes are strongly expressed in the cerebellum. This feature leads to their initial identification and their name "zic," as the abbreviation of "zinc finger protein of the cerebellum." Zic gene function in cerebellar development has been investigated mainly in mice. However, association of heterozygous loss of ZIC1 and ZIC4 with Dandy-Walker malformation, a structural birth defect of the hu...

Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy.
https://doi.org/10.1111/cge.13227
Clinical Genetics; Faqeih EA, Almannai M et. al.

Feb 6th, 2018 - The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with 2 pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from 4 consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progre...

Uniparental disomy and prenatal phenotype: Two case reports and review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5690727
Medicine Li X, Liu Y et. al.

Nov 15th, 2017 - Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. We report prenatal phenotypes of 2 rare cases of UPD. The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal...

Migration of ventriculoperitoneal shunt to urethral and rectal orifices.
https://doi.org/10.1136/bcr-2017-220187
BMJ Case Reports; Osman B, Roushias S et. al.

Nov 10th, 2017 - Ventriculoperitoneal (VP) shunt surgery remains the most widely used neurosurgical procedure for the management of hydrocephalus. However, shunt complications are common and may require multiple surgical procedures during a patient's lifetime. We report the case of a 29-year-old patient with a background of Dandy-Walker malformation, occipital encephalocele, recurrent hydrocephalus, spina bifid...

Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities di...
https://doi.org/10.1002/pd.5159
Prenatal Diagnosis; Lei T, Feng JL et. al.

Sep 24th, 2017 - To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were iden...

Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
https://rarediseases.info.nih.gov/diseases/137/dandy-walker-malformation-with-nasopharyngeal-teratoma-and-diaphragmatic-hernia

Apr 16th, 2017 - These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a questi...

Brain Development Research Program
https://clinicaltrials.gov/ct2/show/NCT00305305

Jan 10th, 2017 - We are studying both the genetics and clinical features of these disorders. We hope to understand the problems faced by individuals with these disorders as well as their causes. In the future, we hope to develop therapies that are geared specifically for individuals based on the underlying biology. To participate in the study, you will be asked to provide a copy of the magnetic resonance imagin...

Dandy-Walker Malformation: A Case Study of an Infant With an Increasing Head Circumfere...
https://doi.org/10.1016/j.pedhc.2016.11.008
Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners; Sherman ML, Close S et. al.

Dec 26th, 2016 - Dandy-Walker Malformation: A Case Study of an Infant With an Increasing Head Circumference and Delayed Developmental Milestones.|2016|Sherman ML,Close S,Weselman B,|complications,diagnosis,physiopathology,etiology,physiopathology,diagnosis,physiopathology,therapy,

Syringomyelia caused by an arachnoid web in a patient with shunted Dandy-Walker malform...
https://doi.org/10.1007/s00381-016-3293-x
Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery; Lee HC, Choi JW et. al.

Nov 8th, 2016 - Dandy-Walker malformation (DWM) is a congenital brain anomaly characterized by dysgenesis of the cerebellar vermis and the presence of a posterior fossa cyst. The association of syringomyelia with DWM is extremely rare. A 10-year-old patient who was diagnosed with DWM in infancy presented with progressive scoliosis and fecal incontinence. He had been treated with cystoventriculoperitoneal shunt...

A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb i...
https://doi.org/10.1002/ajmg.a.38002
American Journal of Medical Genetics. Part A; Bertini V, Orsini A et. al.

Oct 18th, 2016 - We report on a patient with a 6.5 Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4-year and 2-month-old girl, who presented to us with mild developmental delay, absence of language, facial dysmorphism, hirsutism, strabismus, and Dandy-Walker Malformation. The main clinical signs typical of WS (Wisconsin syndrome) are evident in the patient. The molec...

Hydrocephalus-cleft palate-joint contractures syndrome
https://rarediseases.info.nih.gov/diseases/5642/hydrocephalus-cleft-palate-joint-contractures-syndrome

Jun 21st, 2016 - Hydrocephalus-cleft palate-joint contractures syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation, cleft palate, and stiff or "frozen" joints (contractures). Less than 20 cases of hydrocephalus-cleft palate-joint contractures syndrome have been reported. Other symptoms might include: thi...

A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
https://doi.org/10.1111/cge.12752
Clinical Genetics; Oka M, Shimojima K et. al.

Feb 2nd, 2016 - The p.Asp211Gly homozygous HYLS1 mutation is so far known to cause only hydrolethalus syndrome, a lethal malformation syndrome. We report living sibling patients with a homozygous no-stop mutation in exon 4 of HYLS1, NM_145014.2:c.900A>C (p.Ter300TyrextTer11) in the second decade of life. The proband has Joubert syndrome (JS). The younger brother also has JS and an enlarged posterior fossa that...

Delayed rotation of the cerebellar vermis: a pitfall in early second-trimester fetal ma...
https://doi.org/10.1002/uog.15782
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology; Pinto J, Paladini D et. al.

Oct 20th, 2015 - We describe two cases in which delayed rotation of the cerebellar vermis simulated a Dandy-Walker malformation (DWM) on early second-trimester magnetic resonance imaging (MRI). Two pregnant women with suspected fetal posterior fossa anomaly on ultrasound examination underwent fetal MRI at 21 (Case 1) and 19 (Case 2) weeks' gestation. In both cases, upward rotation of the cerebellar vermis was n...

Dandy-Walker Malformation: is the 'tail sign' the key sign?
https://doi.org/10.1002/pd.4705
Prenatal Diagnosis; Bernardo S, Vinci V et. al.

Oct 8th, 2015 - The study aims to demonstrate the value of the 'tail sign' in the assessment of Dandy-Walker malformation. A total of 31 fetal magnetic resonance imaging (MRI), performed before 24 weeks of gestation after second-line ultrasound examination between May 2013 and September 2014, were examined retrospectively. All MRI examinations were performed using a 1.5 Tesla magnet without maternal sedation. ...

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Lea...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564895
American Journal of Human Genetics; Twigg SR, Forecki J et. al.

Sep 4th, 2015 - Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development. Heterozygous deletions of ZIC1 and its nearby paralog ZIC4 on chromosome 3q25.1 are associated with Dandy-Walker malformation of the cerebellum, and loss of the orthologous Zic1 gene in the mouse...

Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.
https://doi.org/10.1007/s12311-015-0699-z
Cerebellum (London, England); Poretti A, Boltshauser E et. al.

Jul 14th, 2015 - The human cerebellum has a protracted development that makes it vulnerable to a broad spectrum of developmental disorders including malformations and disruptions. Starting from 19 to 20 weeks of gestation, prenatal magnetic resonance imaging (MRI) can reliably study the developing cerebellum. Pre- and postnatal neuroimaging plays a key role in the diagnostic work-up of congenital cerebellar abn...

Perioperative management of a patient with Dandy Walker malformation with tetralogy of ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881712
Annals of Cardiac Anaesthesia; Datt V, Tempe DK et. al.

Jul 3rd, 2015 - Perioperative management of a patient with Dandy-Walker malformation (DWM) with tetralogy of Fallot (TOF), patent ductus arteriosus, and pulmonary artery stenosis is a great challenge to the anesthesiologist. Anesthetic management in such patients can trigger tet spells that might rapidly increase intracranial pressure (ICP), conning and even death. The increase in ICP can precipitate tet spell...

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011459
American Journal of Medical Genetics. Part A; Zaki MS, Masri A et. al.

Jun 25th, 2015 - We report on two families, each with documented consanguinity and two affected with overlapping features of Dandy-Walker malformation, genitourinary abnormalities, intellectual disability, and hearing deficit. This phenotype shares similar findings with many well-known syndromes. However, the clinical findings of this syndrome categorize this as a new syndrome as compared with the phenotype of ...

Systematic review and meta-analysis of isolated posterior fossa malformations on prenat...
https://doi.org/10.1002/uog.14900
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology; D'Antonio F, Khalil A et. al.

May 14th, 2015 - To explore the outcome in fetuses with prenatal diagnosis of posterior fossa anomalies apparently isolated on ultrasound imaging. MEDLINE and EMBASE were searched electronically utilizing combinations of relevant medical subject headings for 'posterior fossa' and 'outcome'. The posterior fossa anomalies analyzed were Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst...

Risk factors for Dandy-Walker malformation: a population-based assessment.
https://doi.org/10.1002/ajmg.a.37124
American Journal of Medical Genetics. Part A; Reeder MR, Botto LD et. al.

May 5th, 2015 - Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, but its causes are largely unknown. An increasing number of genes associated with congenital cerebellar malformations have been identified; however, few studies have examined the potential role of non-genetic, potentially modifiable risk factors. From the National Birth Defects Prevention Study, we exa...

Appearance of fetal posterior fossa at 11-14 weeks in fetuses with Dandy-Walker malform...
https://doi.org/10.1002/uog.14883
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology; Volpe P, Contro E et. al.

Apr 28th, 2015 - To describe the sonographic appearance of fetal posterior fossa anatomy at 11-14 weeks of pregnancy and to assess the outcome of fetuses with increased intracranial translucency (IT) and/or brainstem-to-occipital bone (BSOB) diameter. Reference ranges for brainstem (BS), IT and cisterna magna (CM) measurements, BSOB diameter and the BS : BSOB ratio were obtained from the first-trimester ultraso...

Diagnostic pitfall in antenatal manifestations of CPT II deficiency.
https://doi.org/10.1111/cge.12593
Clinical Genetics; Boemer F, Deberg M et. al.

Apr 1st, 2015 - Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inborn error of mitochondrial fatty acid metabolism associated with various phenotypes. Whereas most patients present with postnatal signs of energetic failure affecting muscle and liver, a small subset of patients presents antenatal malformations including brain dysgenesis and neuronal migration defects. Here, we report recurrence o...

Discrepancy in fetal sex assignment between cell free fetal DNA and ultrasound.
https://doi.org/10.1038/jp.2014.231
Journal of Perinatology : Official Journal of the California Perinatal Association; Iruretagoyena JI, Grady M et. al.

Feb 25th, 2015 - Noninvasive prenatal testing utilizing free fetal DNA is commonly used in pregnancy to screen for trisomy 13, 18, 21 and also fetal sex aneuploidy. We report on two cases of discrepancy between phenotypic and genotypic sex and potential medical implications. In our first case, a patient with known male gender via cell free fetal DNA (cffDNA) testing had an ultrasound at 18 weeks' gestation, whi...

Diagnosis of a case of Dandy-Walker malformation aided by measurement of the brainstem-...
https://doi.org/10.1111/jog.12623
The Journal of Obstetrics and Gynaecology Research; Ichizuka K, Mishina M et. al.

Dec 10th, 2014 - Reported is a fetal Dandy-Walker malformation that was strongly suspected in the first trimester through measurement of the brainstem-vermis (B-V) angle, which was found to be 119° on transvaginal ultrasound examination at 14 weeks and 2 days gestation. Definitive diagnosis of the Dandy-Walker malformation was made by magnetic resonance imaging following stillbirth. Ultrasound measurement of th...

Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, Poste...
https://doi.org/10.1016/j.clinimag.2014.10.012
Clinical Imaging; Chapman T, Mahalingam S et. al.

Dec 2nd, 2014 - This second portion of a two-part review illustrates examples of posterior fossa disorders detectable on prenatal ultrasound and MRI, with postnatal or pathology correlation where available. These disorders are discussed in the context of an anatomic classification scheme described in Part 1 of this posterior fossa anomaly review. Assessment of the size and formation of the cerebellar hemispher...

Main congenital cerebral anomalies: how prenatal imaging aids counseling.
https://doi.org/10.1159/000358519
Fetal Diagnosis and Therapy; Garel C, Moutard ML

Feb 28th, 2014 - The purpose of this article is to discuss some common cerebral lesions that may be detected during prenatal screening: corpus callosum dysgenesis, absent septum pellucidum, localized parenchymal ischemic-hemorrhagic lesions, megacisterna magna, Blake's pouch cyst, posterior fossa arachnoid cyst and Dandy-Walker malformation. For each cerebral defect, the main imaging findings are reminded, cert...

Endoscopic third ventriculostomy with/without choroid plexus cauterization for hydrocep...
https://doi.org/10.1007/s00381-013-2344-9
Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery; Zandian A, Haffner M et. al.

Dec 31st, 2013 - Endoscopic third ventriculostomy (ETV) is a viable alternative to CSF shunting in hydrocephalic patients and is used with varying degrees of success dependent on age and etiology. The purpose of this meta-analysis is to analyze data on ETV and ETV/CPC (choroid plexus cauterization) outcomes in hopes of providing a clear understanding of their limitations in patients with hydrocephalus due to he...

A newborn with neurocutaneous melanocytosis and Dandy-Walker malformation.
https://doi.org/10.1016/j.pediatrneurol.2013.04.006
Pediatric Neurology; De Cock J, Snauwaert J et. al.

Dec 10th, 2013 - Neurocutaneous melanocytosis is a rare congenital dysplasia of the neuroectodermal melanocyte precursor cells that leads to proliferation of melanin-producing cells in the skin and leptomeninges. We describe a newborn with a giant congenital melanocytic nevus on his back, buttocks, and thighs. His brain magnetic resonance imaging study revealed bilateral T1 hyperintense lesions in the cerebellu...

Dandy-Walker malformation, papillary thyroid carcinoma, and SDHD-associated paraganglio...
https://doi.org/10.1210/jc.2013-3015
The Journal of Clinical Endocrinology and Metabolism; Huguet I, Walker L et. al.

Oct 24th, 2013 - Dandy-Walker malformation, papillary thyroid carcinoma, and SDHD-associated paraganglioma syndrome.|2013|Huguet I,Walker L,Karavitaki N,Byrne J,Grossman AB,|complications,genetics,complications,complications,etiology,complications,genetics,physiopathology,surgery,complications,genetics,physiopathology,surgery,complications,genetics,genetics,complications,

Long-term outcome in pediatric renal tumor survivors: experience of a single center.
https://doi.org/10.1097/MPH.0b013e3182a06265
Journal of Pediatric Hematology/oncology; Sanpakit K, Triwatanawong J et. al.

Oct 24th, 2013 - Medical records of 30 children with renal tumor diagnosed at Siriraj Hospital during 1996 to 2007 were reviewed. Mean age at diagnosis was 36 months; male to female ratio was 1.7:1. Clinical manifestations included abdominal mass (96.7%), hypertension (40.0%), abdominal pain (36.7%), hematuria (26.7%), postrenal obstruction (16.7%), and proteinuria (13.3%). Eight patients had Denys-Drash malfor...

First-trimester sonographic findings associated with a Dandy-Walker malformation and in...
https://doi.org/10.7863/ultra.32.10.1863
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine; Bornstein E, Goncalves Rodríguez JL et. al.

Sep 25th, 2013 - We report 2 cases in which first-trimester measurements of the intracranial translucency and the brain stem-to-occipital bone diameter were markedly enlarged. This finding was thought to represent an abnormal fourth ventricle-cisterna magna complex. Subsequently, the diagnoses of a Dandy-Walker malformation with partial vermian agenesis in 1 case and inferior vermian hypoplasia in the other wer...

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyl...
https://doi.org/10.1002/ajmg.a.36155
American Journal of Medical Genetics. Part A; Hackmann K, Stadler A et. al.

Sep 16th, 2013 - We report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy-Walker malformation, microcephaly, craniofacial dysmorphism, striking cutaneous syndactyly (hands 3-4, feet 2-3), joint laxity, and short stature. The triplication resulted from the unusua...

Ascending transaqueductal cystoventriculoperitoneal shunting in Dandy-Walker malformati...
https://doi.org/10.1159/000353610
Pediatric Neurosurgery; Unal OF, Aras Y et. al.

Aug 14th, 2013 - The optimal treatment for Dandy-Walker malformation is still controversial. Ventriculoperitoneal shunting, cystoperitoneal shunting or combinations are the most common surgical options in the management of this clinical entity. Endoscopic procedures like ventriculocystostomy, 3rd ventriculostomy or endoscopy-assisted shunt surgeries have become the focus of recent publications. We describe a ne...

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, ba...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925263
European Journal of Human Genetics : EJHG; Cacciagli P, Desvignes JP et. al.

Jun 12th, 2013 - MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen on MRI or at autopsy. The mutation causing Pettigrew has remained elusive since the initial desc...

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667004
Orphanet Journal of Rare Diseases; Ferraris A, Bernardini L et. al.

May 17th, 2013 - The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Using a SNP-array approach, we recentl...

Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malfor...
https://doi.org/10.1016/j.pediatrneurol.2012.12.016
Pediatric Neurology; Azukizawa T, Yamamoto M et. al.

Mar 18th, 2013 - We report a 1-year-old girl with oral-facial-digital syndrome type 1 with multiple malformations of the oral cavity, face, digits, and central nervous system, including agenesis of the corpus callosum, the presence of intracerebral cysts, and agenesis of the cerebellar vermis, which is associated with the subarachnoid space separating the medial sides of the cerebellar hemispheres. This child a...

Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome.
https://doi.org/10.1097/MCD.0b013e32835cfb73
Clinical Dysmorphology; Passalacqua CA, Villegas VP et. al.

Jan 17th, 2013 - The combination of Dandy-Walker malformation, other central nervous system anomalies, and postaxial polydactyly has been reported previously in two pairs of siblings. We propose the name 'Pierquin syndrome' for this combination and we report a new patient with this disorder.

Ultrasound diagnosis of central nervous system anomalies (bifid choroid plexus, ventric...
https://doi.org/10.1002/jcu.21999
Journal of Clinical Ultrasound : JCU; Tonni G, Grisolia G

Oct 11th, 2012 - Trisomy 9 is a lethal chromosomal abnormality that rarely progresses beyond the second trimester of pregnancy. Multiple central nervous system anomalies, including bifid choroid plexus, ventriculomegaly, and Dandy-Walker malformation, associated with multicystic dysplastic kidney disease in a trisomy 9 fetus are reported. The prenatal ultrasound diagnosis has been aided by novel three-dimension...

Another rare case of a child with de novo terminal 9p deletion and co-existing intersti...
https://doi.org/10.1159/000342165
Cytogenetic and Genome Research; Kowalczyk M, Tomaszewska A et. al.

Sep 11th, 2012 - Trisomy 9p is the fourth most common chromosome abnormality found in liveborns. We report on a rare case of partial trisomy 9p complicated by partial monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndrome, developmental delay, mental retardation and brain anomaly in the form of Dandy-Walker malformation. The cytogenetic abnormality was investigat...

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
https://doi.org/10.1002/ajmg.a.35548
American Journal of Medical Genetics. Part A; Delahaye A, Khung-Savatovsky S et. al.

Aug 20th, 2012 - FOXC1 deletion, duplication, and mutations are associated with Axenfeld-Rieger anomaly, and Dandy-Walker malformation spectrum. We describe the clinical history, physical findings, and available brain imaging studies in three fetuses, two children, and one adult with 6p25 deletions encompassing FOXC1. Various combinations of ocular and cerebellar malformations were found. In all three fetuses, ...

Posterior brain in fetuses with Dandy-Walker malformation with complete agenesis of the...
https://doi.org/10.1002/pd.3899
Prenatal Diagnosis; Lachmann R, Sinkovskaya E et. al.

Jun 7th, 2012 - This study aimed to measure the changes in the posterior brain in fetuses with Dandy-Walker malformation (DWM) with complete agenesis of the cerebellar vermis between 11(+0) and 13(+6) weeks of gestation. In the midsagittal view, the brain stem (BS) diameter and the brain stem to occipital bone (BSOB) diameter were measured, and the BS/BSOB ratio was calculated in four fetuses with confirmed DW...

Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker mal...
https://doi.org/10.1016/j.ejmg.2012.04.008
European Journal of Medical Genetics; Liao C, Fu F et. al.

May 23rd, 2012 - We present three foetuses with Dandy-Walker malformation, intra-uterine growth restriction and multiple congenital abnormalities, who were studied by array-based comparative genomic hybridization and revealed a novel locus on chromosome 7p21.3. The association of pure chromosome 7p aberrations with Dandy-Walker malformation has rarely been reported. The present study suggests that the critical ...

Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review...
https://doi.org/10.3109/13816810.2012.675396
Ophthalmic Genetics; Beby F, Des Portes V et. al.

Apr 13th, 2012 - The 6p25 deletion syndrome is a rare disorder characterized by Dandy-Walker malformation, congenital heart defects, developmental delay, dysmorphic facial features, and malformations of the anterior segment of the eye with a risk for glaucoma. Here we report a child harboring a cryptic de novo 6p25 deletion, bilateral optic disc coloboma and characteristic anterior segment anomalies. We review ...

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenat...
https://doi.org/10.1002/pd.3828
Prenatal Diagnosis; Guibaud L, Larroque A et. al.

Mar 15th, 2012 - The purpose of this article is to improve prenatal imaging diagnosis and counselling for cases of 'isolated' Dandy-Walker malformation (DWM) in the light of recent literature, which has demonstrated a potential good clinical and intellectual outcome of fetuses presenting with DWM characterised by partial vermian agenesis (identification of two fissures and three lobes) and absence of associated...

Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevel...
https://doi.org/10.1002/pd.2911
Prenatal Diagnosis; Patek KJ, Kline-Fath BM et. al.

Feb 29th, 2012 - The purpose of this study was to describe the relationship between intracranial and extracranial anomalies and neurodevelopmental outcome for fetuses diagnosed with a posterior fossa anomaly (PFA) on fetal MRI. Cases of Dandy-Walker malformation, vermian hypogenesis/hypoplasia, and mega cisterna magna (MCM) were identified through the Fetal Care Center of Cincinnati between January 2004 and Dec...

Brainstem-vermis and brainstem-tentorium angles allow accurate categorization of fetal ...
https://doi.org/10.1002/uog.11101
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology; Volpe P, Contro E et. al.

Jan 18th, 2012 - To evaluate the role of the brainstem-vermis (BV) and brainstem-tentorium (BT) angles in the differential diagnosis of upward rotation of the fetal cerebellar vermis. The BV and BT angles were measured retrospectively on median sonographic views of the brain in 31 fetuses at 19-28 weeks' gestation with upward rotation of the cerebellar vermis due to Blake's pouch cyst (n = 12), Dandy-Walker mal...

Rare manifestations of Neu-Laxova syndrome.
https://doi.org/10.3109/15513815.2011.618864
Fetal and Pediatric Pathology; Badakali M, Badakali A et. al.

Jan 11th, 2012 - Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings and limb contractures are its key features. We present a stillborn female baby of 1.5 kg with characteristic features including growth retardation, microcephaly, severe ectropion, micrognathia, flattened nose, eclabion, large ea...

Neuroimaging of Dandy-Walker malformation: new concepts.
https://doi.org/10.1097/RMR.0b013e3182a2ca77
Topics in Magnetic Resonance Imaging : TMRI; Correa GG, Amaral LF et. al.

Nov 30th, 2011 - Dandy-Walker malformation (DWM) is the most common human cerebellar malformation, characterized by hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and an enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium, and torcular. Although its pathogenesis is not completely understood, there are several genetic loci related to DWM as well as s...

Management of Dandy-Walker complex-associated infant hydrocephalus by combined endoscop...
https://doi.org/10.3171/2011.7.PEDS1198
Journal of Neurosurgery. Pediatrics; Warf BC, Dewan M et. al.

Oct 3rd, 2011 - Dandy-Walker complex (DWC) is a continuum of congenital anomalies comprising Dandy-Walker malformation (DWM), Dandy-Walker variant (DWV), Blake pouch cyst, and mega cisterna magna (MCM). Hydrocephalus is variably associated with each of these, and DWC-associated hydrocephalus has mostly been treated by shunting, often with 2-compartment shunting. There are few reports of management by endoscopi...

Hydrocephalus in Dandy-Walker malformation.
https://doi.org/10.1007/s00381-011-1544-4
Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery; Spennato P, Mirone G et. al.

Sep 19th, 2011 - Even if the first description of Dandy-Walker dates back 1887, difficulty in the establishment of correct diagnosis, especially concerning differential diagnosis with other types of posterior fossa CSF collection, still persists. Further confusion is added by the inclusion, in some classification, of different malformations with different prognosis and therapeutic strategy under the same label ...

Recurrent pseudo-TORCH appearances of the brain presenting as "Dandy-Walker" malformation.
https://doi.org/10.2350/10-01-0783-CR.1
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society; Cohen MC, Karaman I et. al.

Jul 18th, 2011 - Dandy-Walker malformation (DWM) is a developmental abnormality characterized by cystic dilatation of the fourth ventricle, complete or partial agenesis of the cerebellar vermis, and enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium, and torcula. Calcification of brain tissue is a feature of congenital infection, particularly those involving the TORCH ( Toxoplas...

Posterior fossa malformations.
https://doi.org/10.1053/j.sult.2011.02.003
Seminars in Ultrasound, CT, and MR; Shekdar K

May 20th, 2011 - Understanding embryologic development of the cerebellum and the 4th ventricle is essential for understanding posterior fossa malformations. Posterior fossa malformations can be conveniently classified into those that have a large posterior fossa and those with normal or small posterior fossa. Disorders associated with a large posterior fossa include classic Dandy-Walker malformation, Blake's po...

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Da...
https://doi.org/10.1007/s10048-011-0283-8
Neurogenetics Zanni G, Barresi S et. al.

Apr 12th, 2011 - Fibroblast growth factors (FGFs) are important signaling molecules which act during early vertebrate central nervous system development. FGF17, together with FGF8, is a key factor in the patterning of the mid-hindbrain region with a complex picture of spatiotemporal gene expression during the various stages of cerebellar development. Disruption or reduced expression of fgf17 in mice has been as...

De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 i...
https://doi.org/10.1177/0883073810384996
Journal of Child Neurology; Lim BC, Park WY et. al.

Apr 7th, 2011 - We report a case carrying a de novo interstitial deletion of chromosome 3q22-q25. The clinical phenotype of this case included blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. Contiguous heterozygous deletion of FOXL2, ATR, ZIC1, and ZIC4 was postulated as the causative mechanism of the clinical phenotype. The association of blepha...

Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with oto...
https://doi.org/10.1002/ajmg.a.33901
American Journal of Medical Genetics. Part A; Murphy-Ryan M, Babovic-Vuksanovic D et. al.

Mar 17th, 2011 - We report on a male infant with otopalatodigital syndrome type 2 (OPD2) associated with a novel c.514C>G FLNA mutation and unusual clinical features including bifid tongue and congenital corneal clouding. Bifid tongue and congenital corneal clouding have each only been described once previously in a patient with OPD2, and this is the first description of Dandy-Walker malformation (DWM) in OPD2....

PHACES syndrome and ectopia cordis.
https://doi.org/10.1510/icvts.2010.258442
Interactive Cardiovascular and Thoracic Surgery; Lopez-Gutierrez JC

Jan 20th, 2011 - PHACES syndrome is a spectrum of anomalies, P, posterior fossa anomalies as Dandy-Walker malformation; H, hemangioma; A, arterial lesions of the head and neck (the most commonly detected include dysplasia, aberrant origin or course, hypoplasia, and absence or agenesis); C, cardiac abnormalities as aortic coarctation; E, abnormalities of the eye and S, sternal defect, that may be present in up t...

Usher syndrome associated with a variant of Dandy-Walker malformation.
https://doi.org/10.3928/01913913-20100324-01
Journal of Pediatric Ophthalmology and Strabismus; Simsek T, Ozdamar Y et. al.

Jan 10th, 2011 - Three cases of Usher syndrome associated with a variant of Dandy-Walker malformation in three siblings from consanguineous Turkish parents are described. The siblings had retinitis pigmentosa and hearing loss. Two of the siblings also had mental retardation, which is not a constant finding in Usher syndrome. Dandy-Walker malformation might have contributed to the mental retardation in two of th...

Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report o...
https://doi.org/10.1002/ajmg.a.33652
American Journal of Medical Genetics. Part A; Tohyama J, Kato M et. al.

Jan 4th, 2011 - We report on a female patient with Dandy-Walker malformation possibly caused by heterozygous loss of ZIC1 and ZIC4. The patient presented with mental retardation, epilepsy, and multiple congenital malformations including spina bifida, mild dysmorphic facial features including, thick eyebrows, broad nose, full lips, macroglossia, and hypoplasia of the cerebellar vermis with enlargement of the fo...

Dandy-Walker malformation: a rare association with hypoparathyroidism.
https://doi.org/10.1016/j.pediatrneurol.2010.06.006
Pediatric Neurology; Coban D, Akin MA et. al.

Nov 25th, 2010 - Dandy-Walker malformation is characterized by cystic dilatation of the fourth ventricle and an enlarged posterior cranial fossa with upward displacement of the tentorium, lateral sinuses, and torcular, with agenesis or hypoplasia of the cerebellar vermis. Dandy-Walker malformation occurs in approximately the 4th week of gestation and is associated with various abnormalities involving the cardia...

Familial hydrocephalus with normal cognition and distinctive radiological features.
https://doi.org/10.1002/ajmg.a.33688
American Journal of Medical Genetics. Part A; Basel-Vanagaite L, Raas-Rotchild A et. al.

Oct 27th, 2010 - Hydrocephalus is a clinically and genetically heterogeneous condition. Individuals with posterior fossa abnormalities have an increased risk of developing hydrocephalus. The Dandy-Walker malformation, Dandy-Walker variant, and mega-cisterna magna (MCM) seem to represent a continuum of developmental anomalies of the posterior fossa. Here we describe the natural clinical history and the radiologi...

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
https://doi.org/10.1002/ajmg.a.33674
American Journal of Medical Genetics. Part A; Furtado LV, Bayrak-Toydemir P et. al.

Oct 15th, 2010 - Mutations of the gene coding for emopamil binding protein (EBP) can lead to deficient activity of 3-β-hydroxysteroid Δ(8), Δ(7) isomerase and are most commonly identified in. association with the X-linked dominant (male lethal) chondrodysplasia punctata (CDPX2), also known as Conradi-Hunermann syndrome. Our group has identified a hemizygous EBP mutation in males with a phenotype remarkable for ...

Dandy-Walker malformation masking the molar tooth sign: an illustrative case with magne...
https://doi.org/10.1177/0883073810370477
Journal of Child Neurology; Sartori S, Ludwig K et. al.

Sep 8th, 2010 - Joubert syndrome is a disorder characterized by ataxia, developmental delay, oculomotor anomalies, and breathing irregularities, with cerebellar vermian and midbrain dysgenesis. The molar tooth sign, reflecting the midbrain dysgenesis of Joubert syndrome, is the neuroradiological hallmark and is an essential sign in the identification of this condition. Variable vermian agenesis, an expanded fo...

Goldston syndrome in a fetus: case report and literature review.
https://doi.org/10.3109/15513815.2010.494704
Fetal and Pediatric Pathology; Avcu S, Akdeniz H et. al.

Aug 13th, 2010 - We present a case of the Goldston syndrome which is the association of polycystic kidneys with Dandy-Walker malformation. The diagnosis was made by ultrasound in twenty second week of gestation. Obstetric ultrasound and fetal MRI studies showed hydrocephalus, agenesis of the cerebellar hemispheres, vermian hypoplasia, cystic dilatation of the 4(th) ventricle, enlargement of the posterior fossa,...

Description of the smallest critical region for Dandy-Walker malformation in chromosome...
https://doi.org/10.1002/ajmg.a.33550
American Journal of Medical Genetics. Part A; Mademont-Soler I, Morales C et. al.

Aug 4th, 2010 - We report on a girl with mild dysmorphic facial features, Dandy-Walker malformation (DWM), iris coloboma, profound hearing loss, and hyperlaxity of skin and joints, whose karyotype is 46,XX,t(6;13)(q23;q32)dn and who has a cryptic imbalance at the 13q32 translocation breakpoint assessed by array-CGH. Our patient has many clinical manifestations in common with those of the previously reported ca...

Direct demonstration of Staphylococcus biofilm in an external ventricular drain in a pa...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939992
Pediatric Neurosurgery; Stoodley P, Braxton EE et. al.

Jul 28th, 2010 - External ventricular drains (EVD) are associated with a high infection rate. Early detection of infection is frequently problematic due to a lack of clinical signs and the time period required for culturing. Bacterial biofilms have been suggested to play an important role in the infection of EVD, but direct evidence is as yet lacking. We report the case of a 17- year-old male with Dandy-Walker ...

New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects,...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097391
American Journal of Medical Genetics. Part A; Stevens CA, Lachman RS

Jul 5th, 2010 - We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital heart defects, joint contractures, genital hypoplasia, and distinctive facial features. These sib...

Giant occipital meningocele in an 8-year-old child with Dandy-Walker malformation.
https://doi.org/10.1007/s00381-010-1154-6
Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery; Talamonti G, Picano M et. al.

May 21st, 2010 - The possibility of an association between Dandy-Walker malformation and occipital meningocele is well-known. However, just an overall number of about 40 cases have been previously reported. Giant occipital meningocele has been described only in three newborns. Incidence, pathology, clinical presentation, and proper management of this association are still poorly defined. An 8-year-old boy with ...

Posthemorrhagic cerebellar disruption mimicking Dandy-Walker malformation: fetal imagin...
https://doi.org/10.1016/j.spen.2010.02.015
Seminars in Pediatric Neurology; Limperopoulos C, Folkerth R et. al.

May 3rd, 2010 - Posthemorrhagic cerebellar disruption mimicking Dandy-Walker malformation: fetal imaging and neuropathology findings.|2010|Limperopoulos C,Folkerth R,Barnewolt CE,Connolly S,Du Plessis AJ,|methods,abnormalities,diagnostic imaging,pathology,diagnosis,diagnostic imaging,pathology,methods,methods,

Dandy-Walker malformation, occipital meningoencephalocele, meso-axial polydactyly and b...
https://doi.org/10.1097/MCD.0b013e32833a77f1
Clinical Dysmorphology; Shenoy RD, Kamath N

May 3rd, 2010 - Dandy-Walker malformation, occipital meningoencephalocele, meso-axial polydactyly and bifid hallux.|2010|Shenoy RD,Kamath N,|complications,complications,abnormalities,complications,complications,

Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnos...
https://doi.org/10.1016/j.ejogrb.2010.02.034
European Journal of Obstetrics, Gynecology, and Reproductive Biology; Puhl AG, Zelazny J et. al.

Mar 9th, 2010 - Unbalanced translocation 6p/16q in one fetus is a very rare event and the prenatal sonographic findings have never been published before. We will give a short overview of the literature along with a case report focussing on prenatal ultrasound features and molecular cytogenetic analysis. A 21-year-old primigravid woman presented with a singleton pregnancy at 19 weeks' gestation. The fetus revea...

Dandy-Walker malformation: analysis of 19 cases.
https://doi.org/10.1177/0883073809338410
Journal of Child Neurology; Alexiou GA, Sfakianos G et. al.

Oct 16th, 2009 - Dandy-Walker malformation is a congenital disorder that involves the cerebellum and fourth ventricle. Regarding treatment, there is still controversy over the optimum surgical management. In the current study, we present 19 consecutive cases of Dandy-Walker malformation diagnosed between January 1992 and January 2008 that were treated in our institute. All patients presented with hydrocephalus ...

Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote ...
https://doi.org/10.1111/j.1399-0004.2009.01211.x
Clinical Genetics; Todt I, Mazereeuw-Hautier J et. al.

Oct 1st, 2009 - The Keratitis-Ichthyosis-Deafness syndrome (KIDS) is an autosomal dominant ectodermal dysplasia characterized by ocular, skin, and ear anomalies, including keratitis, palmoplantar keratoderma, and congenital hearing loss. Most cases are due to mutations in the GJB2 gene encoding connexin 26. The Dandy-Walker malformation (DWM) is a developmental anomaly of the midline of the cerebellum with com...

Development of the human cerebellum and its disorders.
https://doi.org/10.1016/j.clp.2009.06.001
Clinics in Perinatology; Ten Donkelaar HJ, Lammens M

Sep 7th, 2009 - The cerebellum arises from two anatomically and molecularly different proliferative compartments: the cerebellar ventricular zone and the rhombic lip. The protracted development makes the cerebellum vulnerable to a broad spectrum of developmental disorders, of which the more frequent (the Dandy-Walker and related malformations and the pontocerebellar hypoplasias) are discussed in this article. ...

FOXC1 is required for normal cerebellar development and is a major contributor to chrom...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2843139
Nature Genetics; Aldinger KA, Lehmann OJ et. al.

Aug 11th, 2009 - Dandy-Walker malformation (DWM), the most common human cerebellar malformation, has only one characterized associated locus. Here we characterize a second DWM-linked locus on 6p25.3, showing that deletions or duplications encompassing FOXC1 are associated with cerebellar and posterior fossa malformations including cerebellar vermis hypoplasia (CVH), mega-cisterna magna (MCM) and DWM. Foxc1-null...

Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translu...
https://doi.org/10.1002/jcu.20612
Journal of Clinical Ultrasound : JCU; Nakamura-Pereira M, Cima LC et. al.

Aug 5th, 2009 - We report a case of a 23-year-old pregnant woman, who underwent amniocentesis after ultrasound (US) examination in the first trimester which revealed a nuchal translucency thickness of 2.9 mm. Cytogenetic analysis revealed complete tetrasomy of the short arm of chromosome 9. Further US evaluation in the second trimester revealed Dandy-Walker malformation, ventriculomegaly, bilateral clubfoot, l...