Noor Nida, Kazmi Zehra, Mehnaz Ayesha
Department of Paediatrics, Civil Hospital, Dow University of Health Sciences, Karachi.
J Coll Physicians Surg Pak. 2012 Jun;22(6):412-3.
Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. We present here a case of newborn male who presented with the complaints of feed regurgitation, choking and cyanosis. There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism. The patient was diagnosed as having Cornelia de Lange syndrome on the recognition of distinctive facial features in addition to the pre- and postnatal growth retardation, feeding problems and physical malformations including limb defects.
科妮莉亚·德朗热综合征（CdLS）是一种罕见的多系统发育障碍综合征，其特征为面部畸形（拱形眉毛、连眉、鼻梁凹陷、人中长、嘴角下垂）、上肢畸形、多毛症、心脏缺陷、生长和认知发育迟缓以及胃肠道异常。我们在此报告一例新生儿男性病例，该患儿表现为喂食反流、呛咳和发绀。患儿存在明显的面部畸形，眉毛拱形且浓密、人中长、上唇薄、鼻梁凹陷以及多毛症。除了产前和产后生长发育迟缓、喂养问题以及包括肢体缺陷在内的身体畸形外，根据独特的面部特征，该患者被诊断为科妮莉亚·德朗热综合征。
