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About 1,708 results

ALLMedicine™ Macrocephaly Center

Research & Reviews  663 results

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
https://doi.org/10.1002/ajmg.a.62872
American Journal of Medical Genetics. Part A; Penon-Portmann M, Eldomery MK et. al.

Jun 26th, 2022 - Joubert syndrome (JS), a well-established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features. Other manifestations can include polydactyly, accessory frenula, renal, or liver dise...

Natural History of Glycosphingolipid and Glycoprotein Lysosomal Storage Disorders
https://clinicaltrials.gov/ct2/show/NCT00029965

Jun 24th, 2022 - The GM1 and GM2 gangliosidoses are rare lysosomal storage disorders that primarily affect the brain and are uniformly fatal. The glycoproteinoses sialidosis and galactosialidosis are ultra-rare disorders involving predominantly the skeletal and ce...

Anesthetic Considerations in an Infant With Malan Syndrome: A Case Report.
https://doi.org/10.1213/XAA.0000000000001600
A&A Practice; Partyka LM

Jun 23rd, 2022 - Malan syndrome, also known as Sotos-like syndrome or Sotos syndrome 2, is an overgrowth disorder that results from point mutations of the nuclear factor I/X (NFIX) gene. The phenotype consists of macrocephaly, facial dysmorphisms, hypotonia, and d...

De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: ...
https://doi.org/10.1093/hmg/ddac136
Human Molecular Genetics; Suzuki H, Aoki K et. al.

Jun 20th, 2022 - CTR9 is one of five genes that form the PAF1 complex, which binds to RNA polymerase II and plays critical roles in transcriptional elongation and transcription-coupled histone modifications including histone H3K4me3 and H3K36me3. In this study, de...

Complex translocation leading to13q interstitial deletion in a Moroccan child with reti...
https://doi.org/10.1080/13816810.2022.2083183
Ophthalmic Genetics; El Amrani Z, Elalaoui SC et. al.

Jun 7th, 2022 - Retinoblastoma (RB) is the most common malignant intraocular tumor in children; it affects their eyes often even prenatally. RB may be sporadic or familial, due to germinal mutation in RB1 gene or by abnormal chromosomal abnormalities involving RB...

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Clinicaltrials.gov  3 results

Natural History of Glycosphingolipid and Glycoprotein Lysosomal Storage Disorders
https://clinicaltrials.gov/ct2/show/NCT00029965

Jun 24th, 2022 - The GM1 and GM2 gangliosidoses are rare lysosomal storage disorders that primarily affect the brain and are uniformly fatal. The glycoproteinoses sialidosis and galactosialidosis are ultra-rare disorders involving predominantly the skeletal and ce...

Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development
https://clinicaltrials.gov/ct2/show/NCT04993235

Aug 6th, 2021 - Background and Rationale Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve alterations in dimensions of the whole body or of specific body parts. SS is characterized by advanced bone age, m...

Endovascular Management of Pediatric Intracranial Arteriovenous Shunts
https://clinicaltrials.gov/ct2/show/NCT03950258

May 13th, 2020 - Intracranial arteriovenous shunts (ICAVS) in young children are characterized by frequent high-flow fistulas. In association with high-flow fistulas and the physiological condition of the developing brain and heart, each ICAVS type tends to presen...

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News  17 results

Multiple Lesions With Recurrent Bleeding
https://www.mdedge.com/dermatology/article/249160/nonmelanoma-skin-cancer/multiple-lesions-recurrent-bleeding
Diem-Phuong D. Dao, BS, Kimberly Salkey, MD

Nov 29th, 2021 - The Diagnosis: Nevoid Basal Cell Carcinoma Syndrome Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare autosomal-dominant disorder that increases the risk for developing various carcinomas and affects multiple o.

When to Consider Referral to a Genetic Counselor for Lesser Known Cancer Syndromes
https://www.onclive.com/view/when-to-consider-referral-to-a-genetic-counselor-for-lesser-known-cancer-syndromes

Dec 5th, 2020 - Abstract This article reviews two newly described cancer syndromes: DICER1 and BAP1 tumor predisposition syndrome, and four uncommon syndromes: Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome, Hereditary Leiomyomatosis and Renal Cell Ca...

ODCI Gene Linked to New Neurodevelopmental Disorder
https://www.staging.medscape.com/viewarticle/939996

Oct 29th, 2020 - A mutation of the ODC1 gene, which plays a key role in polyamine metabolism, has been implicated in a syndromic neurodevelopmental disorder first described in 2018 and linked to a number of dysmorphic features and brain abnormalities, but it may b...

ODCI Gene Linked to New Neurodevelopmental Disorder
https://www.medscape.com/viewarticle/939996

Oct 29th, 2020 - A mutation of the ODC1 gene, which plays a key role in polyamine metabolism, has been implicated in a syndromic neurodevelopmental disorder first described in 2018 and linked to a number of dysmorphic features and brain abnormalities, but it may b...

ODC1 gene linked to newly described neurodevelopmental disorder
https://www.mdedge.com/neurology/article/230818/neurodevelopmental-disorders/odc1-gene-linked-newly-described
Richard Mark Kirkner

Oct 28th, 2020 - A mutation of the ODC1 gene, which plays a key role in polyamine metabolism, has been implicated in a syndromic neurodevelopmental disorder first described in 2018 and linked to a number of dysmorphic features and brain abnormalities, but it may b.

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