Document Detail

A new autosomal recessive syndrome with Zellweger-like manifestations.
MedLine Citation:
PMID:  12784304     Owner:  NLM     Status:  MEDLINE    
A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in Zellweger syndrome: high forehead, broad nasal bridge, epicanthal fold, upslanting palpebral fissures, and micrognathia. In addition to the physical anomalies, they also have severe psychomotor retardation and hypotonia. However, results of peroxisomal studies including very long chain fatty acids and plasmalogen functions, were normal. There was partial deficiency of respiratory chain complexes. We suggest that this is a new autosomal recessive syndrome that could be due to a nuclear-encoded mitochondrial defect.
Joe K Ahn; Dorit Lev; Esther Leshinsky-Silver; Mira Ginzberg; Tally Lerman-Sagie
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  119A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-06-04     Completed Date:  2004-02-03     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:  352-5     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Mitochondrial Disease Clinic, Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
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MeSH Terms
Abnormalities, Multiple / diagnosis*,  genetics
Child, Preschool
Face / abnormalities*
Fatty Acids / analysis*
Genes, Recessive*
Mental Retardation / diagnosis*,  genetics
Zellweger Syndrome / diagnosis*,  genetics
Reg. No./Substance:
0/Fatty Acids

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