Your browser doesn't support javascript.
loading
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome.
Chong, Karen; Saleh, Maha; Injeyan, Marie; Miron, Ioana; Fong, Katherine; Shannon, Patrick.
Affiliation
  • Chong K; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada.
  • Saleh M; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Injeyan M; University of Toronto, Toronto, ON, Canada.
  • Miron I; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Fong K; University of Toronto, Toronto, ON, Canada.
  • Shannon P; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada.
Prenat Diagn ; 38(2): 117-122, 2018 01.
Article in En | MEDLINE | ID: mdl-29240237
OBJECTIVE: Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of nonisolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy, and family history in confirming this diagnosis. METHOD: Retrospective review of 3 cases of SGBS type I in a single tertiary care centre. Family history, fetal ultrasound, autopsy findings, and genetic testing for GPC3 was performed for each case. RESULTS: Fetal ultrasound findings in the second trimester were CDH, omphalocele, increased nuchal fold, renal anomaly, and cleft lip and palate. Fetal autopsy confirmed the prenatal ultrasound findings and also showed dysmorphic facial features and premalignant lesions on renal and gonadal histology. Microarray and DNA analysis of the GPC3 gene confirmed the diagnosis of SGBS type I in each case. CONCLUSION: Nonisolated CDH in a male fetus suggests a diagnosis of SGBS type I. Fetal autopsy, pedigree analysis, and genetic testing for GPC3 are all essential to confirming the diagnosis. The histological findings of ovotestes and nephroblastomatosis indicate that cancer predisposition is established early in fetal life.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arrhythmias, Cardiac / Ultrasonography, Prenatal / Genetic Diseases, X-Linked / Glypicans / Hernias, Diaphragmatic, Congenital / Gigantism / Heart Defects, Congenital / Intellectual Disability Type of study: Diagnostic_studies / Observational_studies / Risk_factors_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Prenat Diagn Year: 2018 Document type: Article Affiliation country: Canada Country of publication: United kingdom

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arrhythmias, Cardiac / Ultrasonography, Prenatal / Genetic Diseases, X-Linked / Glypicans / Hernias, Diaphragmatic, Congenital / Gigantism / Heart Defects, Congenital / Intellectual Disability Type of study: Diagnostic_studies / Observational_studies / Risk_factors_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Prenat Diagn Year: 2018 Document type: Article Affiliation country: Canada Country of publication: United kingdom