Document Detail

MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia.
MedLine Citation:
PMID:  12910487     Owner:  NLM     Status:  MEDLINE    
Recent reports have emphasized the role of cholesterol in vertebrate embryonic development. The RSH or so-called Smith-Lemli-Opitz syndrome (SLOS) was the first multiple congenital anomalies/mental retardation syndrome related to a cholesterol synthesis disturbance. Familial hypobetalipoproteinemia is a well-known dominantly inherited entity in which affected individuals usually are free of symptoms. We report on the unusual association of a malformation syndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia. We discuss the possible causal relationship between the two conditions and the current understanding of the role of cholesterol in normal embryogenesis.
Karine Nguyen; Sabine Sigaudy; Nicole Philip
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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 Aug 
Date Detail:
Created Date:  2003-08-11     Completed Date:  2004-04-28     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:  109-12     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Département de Génétique Médicale, Hôpital D'enfants de la Timone, Marseille, France.
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MeSH Terms
Cholesterol / biosynthesis,  deficiency*
Congenital Abnormalities / embryology,  genetics,  metabolism
Craniofacial Abnormalities / genetics,  pathology
Genes, Dominant*
Hypobetalipoproteinemias / genetics*
Mental Retardation* / embryology,  genetics,  metabolism
Smith-Lemli-Opitz Syndrome / genetics
Reg. No./Substance:

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