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Bhuiyan ZA, Zilfalil BA, Hennekam RCM
Correspondence: Dr Zahurul A Bhuiyan, firstname.lastname@example.org
The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that Cornelia de Lange syndrome is caused by mutations in the NIPBL gene, the human homologue of the Drosophila Nipped-B gene. Here, we present the first clinical case report of a Malay child, a 9-year-old boy with the Cornelia de Lange syndrome. We also report the molecular investigation of the NIPBL gene in this patient.
Keywords: congenital anomalies, Cornelia de Lange syndrome, NIPBL gene, mutation, polymerase chain reaction
Singapore Med J 2006; 47(8): 724-727