Document Detail

Vertically transmitted hypoplasia of the abdominal wall musculature.
MedLine Citation:
PMID:  15127756     Owner:  NLM     Status:  MEDLINE    
The prune belly syndrome (OMIM 100100) is an association of bladder dilation with hypoplasia of the abdominal wall muscles. This malformation sequence is due to early urethral obstruction. We report a family with abdominal wall muscular hypoplasia as an isolated defect, not associated with the urethral obstruction sequence. The proband is a q3-year-old male who presented with abdominal wall laxity and severe constipation. His mother, maternal grandmother and younger brother had varying degrees of abdominal wall muscular deficiency and constipation. His mother's condition was aggravated by her 2 pregnancies. This family shows vertical transmission (compatible with autosomal dominant or mitochondrial inheritance) of the abdominal phenotype of prune belly sequence without any evidence of urinary tract or renal pathology. The expression in the sons may remain incomplete because abdominal distention due to pregnancy will not occur.
Yuin-Chew Chan; Lynne M Bird
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  13     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2004 Jan 
Date Detail:
Created Date:  2004-05-06     Completed Date:  2004-06-02     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  7-10     Citation Subset:  IM    
Division of Pediatric Dermatology, Children's Hospital and Health Center, 3020 Children's Way #5031, San Diego, CA 92123, USA.
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MeSH Terms
Abdominal Muscles / pathology
Abdominal Wall / pathology
Family Health
Prune Belly Syndrome / diagnosis*,  pathology*

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