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About 18,020 results

Spectrum of fetal limb anomalies.
https://doi.org/10.1002/jcu.23273
Journal of Clinical Ultrasound : JCU; Thakur S, Chaddha V et. al.

Jan 15th, 2023 - Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk. We present 54 cases of limb malformations detected antenata...

Laparoscopy combined with transvaginal surgery for Herlyn-Werner-Wunderlich syndrome: A...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9750648
Medicine Niu G, Zhai Y et. al.

Jan 11th, 2023 - Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital Mullerian duct anomaly disease that is characterized by a triad of symptoms, didelphys uterus, blind hemivagina, and ipsilateral renal agenesis. Herein, we reported a case from China. An 11-year-old patient presented to our hospital with lower abdominal pain and frequent urination. Computed tomography and magnetic resonance imaging re...

Spontaneous Closure of Congenital Cranial Defect: Is Early Surgical Intervention Warran...
https://doi.org/10.1097/SCS.0000000000009117
The Journal of Craniofacial Surgery; Seu MY, Aminzada A et. al.

Jan 7th, 2023 - Infantile cranial development typically occurs in a predictable sequence of events; however, less is known about how the development occurs in isolated, nonsyndromic congenital craniofacial anomalies. Furthermore, the timing of pediatric cranioplasty has been extrapolated from adult studies. Thus, the management of nonsyndromic congenital craniofacial anomalies presents with unique challenges t...

Case Report: Anesthesia for a Neonate With Cutis Aplasia.
https://doi.org/10.1213/XAA.0000000000001628
A&A Practice; Quak SM, Chong SY

Jan 5th, 2023 - Cutis aplasia is a rare condition characterized by skin and subcutaneous tissue defects. Researchers have previously described both conservative and surgical management methods. We report herein the case of a neonate with extensive cutis aplasia involving 37% of the total body surface area. Due to the risk of meningitis and catastrophic hemorrhage associated with scalp defects, she underwent st...

Isolated aortic arch anomalies are associated with defect severity and outcome in patie...
https://doi.org/10.1007/s00383-022-05354-1
Pediatric Surgery International; Gupta VS, Popp EC et. al.

Dec 30th, 2022 - Congenital diaphragmatic hernia (CDH) patients often have suspected isolated aortic arch anomalies (IAAA) on imaging. The purpose of this work was to describe the incidence and outcomes of CDH + IAAA patients. Cardiovascular data were collected for infants from the CDH Study Group born between 2007 and 2019. IAAA were defined as coarctation of aorta, hypoplastic aortic arch, interrupted aortic ...

Axenfeld-Rieger syndrome: a novel histopathologic finding associated with corneal abnor...
https://doi.org/10.1186/s12886-022-02754-8
BMC Ophthalmology; Yu T, Dai Z et. al.

Dec 29th, 2022 - Axenfeld-Rieger syndrome (ARS) is a rare kind of anterior segment dysgenesis (ASD). The most common ocular features of ARS are posterior embryotoxon and iris hypoplasia, while some patients may manifest as corneal opacity and edema. However, the current understanding of how ARS affects the cornea is still incomplete. This study reports a novel histopathological finding of ARS, complicating corn...

A review of polydactyly and its inheritance: Connecting the dots.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9771235
Medicine Bubshait DK

Dec 24th, 2022 - This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown genetic roots. This review summarizes the current information and genetics-enhanced understanding of polydactyly. There is a frequency of 0.37 to 1.2 per 1000 live births for polydactyly, which is also known as hyperdactyly. It is c...

Abernethy malformation with unusual cardiac malformation: Case report and literature re...
https://doi.org/10.1111/echo.15504
Echocardiography (Mount Kisco, N.Y.); Xu L, Zhang H et. al.

Dec 15th, 2022 - Abernethy malformation, also known as congenital extrahepatic shunt, is a rare anomaly, which is characterized by partial or complete diversion of the portal blood into the systemic venous circulation. The clinical manifestations of Abernethy malformation during childhood include neonatal cholestasis, failure to thrive, mental retardation, and other congenital defects. We report a case of Abern...

Anatomy and embryology of tracheo-esophageal fistula.
https://doi.org/10.1016/j.sempedsurg.2022.151231
Seminars in Pediatric Surgery; Durkin N, De Coppi P

Dec 3rd, 2022 - Anomalies in tracheo-esophageal development result in a spectrum of congenital malformations ranging from, most commonly, esophageal atresia with or without trachea-esophageal fistula (EA+/-TEF) to esophageal web, duplication, stricture, tracheomalacia and tracheal agenesis. Despite the relative frequency of EA, however, the underlying etiology remains unknown and is likely due to a combination...

A ten-year surgical experience in patients of Tessier No.0 cleft with a bifid nose.
https://doi.org/10.1016/j.ijporl.2022.111399
International Journal of Pediatric Otorhinolaryngology; Wang X, Wang H et. al.

Dec 2nd, 2022 - Tessier No.0 cleft with a bifid nose is a rare malformation. Reconstruction of the nose is essential for children/adults to correct facial cosmetic defects and contribute to developing patients' mental health. The aim of the study was to present the 10-year clinical results using local flaps or expanded forehead flaps in bifid nose patients. A retrospective review was performed between January ...

Embryology and anatomy of congenital diaphragmatic hernia.
https://doi.org/10.1016/j.sempedsurg.2022.151229
Seminars in Pediatric Surgery; De Leon N, Tse WH et. al.

Nov 30th, 2022 - Prenatal and postnatal treatment modalities for congenital diaphragmatic hernia (CDH) continue to improve, however patients still face high rates of morbidity and mortality caused by severe underlying persistent pulmonary hypertension and pulmonary hypoplasia. Though the majority of CDH cases are idiopathic, it is believed that CDH is a polygenic developmental defect caused by interactions betw...

Anatomy and embryology of abdominal wall defects.
https://doi.org/10.1016/j.sempedsurg.2022.151230
Seminars in Pediatric Surgery; Khan FA, Raymond SL et. al.

Nov 30th, 2022 - Abdominal wall defects are one of the most frequently encountered human congenital anomalies. They are seen in as many as 1 in 2,000 live births with evidence to suggest that their incidence is increasing. While often discussed together abdominal wall defects consist mainly of two entities namely gastroschisis and omphalocele. There are marked differences in their theories of embryo-pathogenesi...

Biliary atresia & choledochal malformation--Embryological and anatomical considerations.
https://doi.org/10.1016/j.sempedsurg.2022.151235
Seminars in Pediatric Surgery; Muntean A, Davenport M

Nov 29th, 2022 - The two main biliary pathologies in paediatric practice, biliary atresia and choledochal malformations (CM), have their origins within prenatal life. Nevertheless, the actual mechanisms remain elusive with many unanswered questions. The extrahepatic bile duct develops as a funnel-like structure emerging from the foregut from about 3-4 weeks of gestation into the mesenchyme of the septum transve...

Congenital lung malformations: Dysregulated lung developmental processes and altered si...
https://doi.org/10.1016/j.sempedsurg.2022.151228
Seminars in Pediatric Surgery; Doktor F, Antounians L et. al.

Nov 29th, 2022 - Congenital lung malformations comprise a diverse group of anomalies including congenital pulmonary airway malformation (CPAM, previously known as congenital cystic adenomatoid malformation or CCAM), bronchopulmonary sequestration (BPS), congenital lobar emphysema (CLE), bronchogenic cysts, and hybrid lesions. Little is known about the signaling pathways that underlie the pathophysiology of thes...

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.
https://doi.org/10.1002/ajmg.a.63054
American Journal of Medical Genetics. Part A; Rimoldi M, Rinaldi B et. al.

Nov 24th, 2022 - Coffin-Siris Syndrome (CSS) is a rare multi-system dominant condition with a variable clinical presentation mainly characterized by hypoplasia/aplasia of the nail and/or distal phalanx of the fifth digit, coarse facies, hirsutism/hypertrichosis, developmental delay and intellectual disability of variable degree and growth impairment. Congenital anomalies may include cardiac, genitourinary and c...

Vein of Galen Aneurysmal Malformation with Anomalous Right Superior Vena Cava to the Le...
https://doi.org/10.1007/s00246-022-03057-x
Pediatric Cardiology; Hoda M, Lemler M et. al.

Nov 24th, 2022 - Vein of Galen aneurysmal malformation (VGAM) is a rare intracranial vascular malformation which typically presents in a critically ill newborn with intractable heart failure, severe pulmonary hypertension, and right heart dilation. We report two unusual cases of neonates with VGAM and anomalous connection of right superior vena cava to the left atrium. Both neonates were diagnosed with VGAM in ...

Update of surgical treatment of polydactyly.
https://doi.org/10.1097/MOP.0000000000001204
Current Opinion in Pediatrics; Tawfeeq Y, Hendry JM et. al.

Nov 23rd, 2022 - Polydactyly presents with variable extent of duplication and may involve preaxial/radial (hand)/medial (foot), postaxial/ulnar (hand)/lateral (foot) or central duplication. This review will summarize recent advancements in the surgical management of this common entity. Modifications to classification systems aim to help guide surgical management of polydactyly. Attempts have been made at quanti...

Pyogenic brain abscess associated with an incidental pulmonary arteriovenous malformation.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670921
BMJ Case Reports; Ryan KM, Siegler E

Nov 18th, 2022 - Pulmonary arteriovenous malformations (PAVMs) are rare and often asymptomatic vascular anomalies that can be associated with serious neurological consequences due to right-to-left shunting. We report a case of a woman in her 80s without substantial medical history who presented with a headache, weakness and personality changes, and was found to have a pyogenic brain abscess requiring emergent n...

Incidental pseudoaneurysm of the mitral-aortic intervalvular fibrosa in asymptomatic pa...
https://doi.org/10.1111/jocs.17202
Journal of Cardiac Surgery; Romiti S, Wretschko E et. al.

Nov 16th, 2022 - Pseudoaneurysm of the mitral-aortic intervalvular fibrosa (P-MAIVF) can be a rare but life-threatening complication of infective endocarditis, cardiac surgery, or blunt chest trauma. Congenital heart diseases especially in young patients are reported as additionally predisposing factors. We present the case of an asymptomatic 52 years-old male with bicuspid aortic valve and gastrointestinal pol...

Fetal cerebral ventriculomegaly: What do we tell the prospective parents?
https://doi.org/10.1002/pd.6266
Prenatal Diagnosis; Giorgione V, Haratz KK et. al.

Nov 14th, 2022 - Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild (≥10 mm) and severe ventriculomegaly (≥15 mm) are defined according to the measurement of distal lateral ventricles that is included in the routine sonographic examination of central nervous system. A detailed neurosonography and anat...