| Vertically transmitted hypoplasia of the abdominal wall musculature. | |
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MedLine Citation:
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PMID: 15127756 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Yuin-Chew Chan; Lynne M Bird |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 13 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2004 Jan |
Date Detail:
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Created Date: 2004-05-06 Completed Date: 2004-06-02 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 7-10 Citation Subset: IM |
Affiliation:
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Division of Pediatric Dermatology, Children's Hospital and Health Center, 3020 Children's Way #5031, San Diego, CA 92123, USA. |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/100100 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abdominal Muscles
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pathology Abdominal Wall / pathology Family Health Female Humans Infant Male Phenotype Prune Belly Syndrome / diagnosis*, pathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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