Document Detail

Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome?
MedLine Citation:
PMID:  12923870     Owner:  NLM     Status:  MEDLINE    
We present three patients with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive bone changes characterized by overtubulation and rarefaction of long bones with dense metaphyseal striations occurring in adolescence. Abnormalities of lipid and carbohydrate metabolism, hepatosplenomegaly, acanthosis nigricans, and hirsutism were not found. Comparison of the condition of these patients with known syndromic lipodystrophies suggests that they represent a previously unrecognized genetic disorder. The occurrence in sibs born to consanguineous parents and a third patient from the same tribal unit suggest autosomal recessive inheritance.
A Rajab; M Khaburi; S Spranger; J Kunze; J Spranger
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  121A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Sep 
Date Detail:
Created Date:  2003-08-18     Completed Date:  2003-12-12     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  271-6     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman.
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MeSH Terms
Bone Diseases / congenital*,  radiography
Deafness / congenital*
Dwarfism / genetics*
Lipodystrophy / congenital*
Mental Retardation / genetics*

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