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A new autosomal recessive syndrome with Zellweger‐like manifestations
Author(s) -
Ahn Joe K.,
Lev Dorit,
LeshinskySilver Esther,
Ginzberg Mira,
LermanSagie Tally
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20124
Subject(s) - zellweger syndrome , palpebral fissure , hypotonia , peroxisomal disorder , medicine , psychomotor retardation , genetics , biology , endocrinology , anatomy , pathology , peroxisome , gene , alternative medicine
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. © 2003 Wiley‐Liss, Inc.