Clinical Genetic Service, Department of Health, Hong Kong, China
IFM Lo ( 盧輝文 ) MRCP, FHKCPaed, FHKAM
TMF Tong ( 唐鳴科 ) MSc
STS Lam ( 林德深 ) MD, FRCP, FHKAM
Department of Paediatrics, Kwong Wah Hospital, 25 Waterloo Road, Kowloon, Hong Kong, China
W Kwong ( 鄺家信 ) MRCP(UK), FHKCPaed, FHKAM
DKK Ng ( 吳國強 ) FRCP, FHKAM
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Lai Chi Kok, Kowloon, Hong Kong, China
RSY Lee ( 李誠仁 ) MRCP(UK), FHKAM
Division of Clinical Biochemistry, Queen Mary Hospital, 102 Pokfulam Road, Hong Kong, China
S Tam ( 譚志輝 ) FRCP(Edin), FHKAM(Pathology), FHKAM(Medicine)
STS Siu ( 蕭德成 ) MPhil, CBiol, FIBMS
Correspondence to: Dr STS Lam
Received July 11, 2006
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.
