Table of Contents

HK J Paediatr (New Series)
Vol 11. No. 4, 2006

HK J Paediatr (New Series) 2006;11:327-330

Case Report

A Novel Mutation of the EBP Gene Causes Conradi-Huner mann Syndrome

IFM Lo, W Kwong, RSY Lee, S Tam, TMF Tong, DKK Ng, STS Siu, STS Lam


Abstract

A girl was born with rhizomelic limb shortening, narrow chest, generalised ichthyosis, and bilateral cataract. Skeletal X-ray showed wide spread stippled calcifications. Sterol metabolite analysis revealed elevation of 8-dehydrocholesterol and cholest-8(9)-en-3b-ol, consistent with Conradi-Hunermann syndrome, an X-linked dominant cholesterol biosynthesis disorder. Analysis of the EBP gene found a novel, heterozygous, 3 bp deletion in exon 2.

Keyword : Chondrodysplasia punctata; Conradi-Hunermann syndrome; EBP gene; Mutation


Abstract in Chinese

 
 

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