Document Detail

Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?
MedLine Citation:
PMID:  20727000     Owner:  NLM     Status:  In-Data-Review    
Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible transmission of non-syndromic abdominal wall defects. It could be hypothesized that similar developmental defects may result in anomalies like hypospadias in males or developmental anomalies of the labia minora or labia majora in females.
Ambroise Wonkam; Philipe Extermann; Jacques Birraux; Siv Fokstuen
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Congenital anomalies     Volume:  51     ISSN:  1741-4520     ISO Abbreviation:  Congenit Anom (Kyoto)     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-05-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9306292     Medline TA:  Congenit Anom (Kyoto)     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  96-9     Citation Subset:  IM    
Copyright Information:
© 2011 The Authors. Congenital Anomalies © 2011 Japanese Teratology Society.
Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa Dianecho Pediatric Surgery Service Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
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