Clinical Genetic Service, Department of Health, Hong Kong, China
ACF Lam ( 林傳發 ) MRCPCH
STS Lam ( 林德深 ) FHKAM
Department of Chemical Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, N.T., Hong Kong, China
CW Lam ( 林青雲 ) FHKAM(Pathology)
Prenatal Diagnostic and Counselling Centre, Tsan Yuk Hospital, 30 Hospital Road, Sai Ying Pun, Hong Kong, China
MHY Tang ( 唐海燕 ) FHKAM(O&G)
Private Obstetrician, Hong Kong, China
JWY Chu ( 朱偉怡 ) FHKAM(O&G)
Correspondence to: Dr STS Lam
Received July 3, 2006
Hypophosphatasia is a rare inborn error of metabolism. The disease is characterised by skeletal mineralisation and dentition defects. Mutations have been found in the TNSALP gene in various forms of hypophosphatasia. We report the first Chinese case of perinatal lethal form of hypophosphatasia due to previously reported pathogenic compound heterozygous mutation in the TNSALP gene; and successfully applied clinically in prenatal diagnostic testing. The authors emphasised the importance of accurate diagnosis of fetal presentation of skeletal dysplasia for genetic counselling, and discussed its differential diagnoses.