Bhuiyan Z A, Zilfalil B A, Hennekam R C M
Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ, The Netherlands.
Singapore Med J. 2006 Aug;47(8):724-7.
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.
科妮莉亚·德朗热综合征是一种多发性先天性异常综合征，其特征为面部畸形、多毛症、严重生长发育迟缓以及上肢畸形。据估计，其患病率为万分之一。最近，几个独立的研究小组证实，科妮莉亚·德朗热综合征是由NIPBL基因突变引起的，该基因是果蝇Nipped - B基因的人类同源基因。在此，我们报告首例马来儿童科妮莉亚·德朗热综合征临床病例，患儿为一名9岁男孩。我们还报告了该患者NIPBL基因的分子研究情况。
