Ram S P, Noor A R, Mahbar Z, Krishna T N
Department of Paediatrics, Hospital Universiti Sains Malaysia, Kelantan.
Int J Pediatr Otorhinolaryngol. 1994 Mar;29(1):65-71. doi: 10.1016/0165-5876(94)90110-4.
A single nostril associated with alobar holoprosencephaly is a rare congenital lesion. This paper reports two female term neonates with holoprosencephaly. The first neonate asphyxiated at birth had a single nostril, hypotelorism, posterior cleft palate, inferonasal coloboma of the iris and disc and persistent tunica vasculosa lentis. The other neonate had cleft lip and palate and recurrent convulsions. Both neonates had gross motor and developmental delay. Cranial sonography and CT scan showed features consistent with alobar holoprosencephaly. Karyotyping for the first neonate and her family members was normal. Both of them were treated conservatively and supervised.
与无脑叶型前脑无裂畸形相关的单个鼻孔是一种罕见的先天性病变。本文报告了两名患有前脑无裂畸形的足月女新生儿。第一名新生儿出生时窒息，有单个鼻孔、眼距过窄、后腭裂、虹膜和视盘鼻下缺损以及晶状体血管膜持续存在。另一名新生儿有唇腭裂和反复惊厥。两名新生儿均有粗大运动和发育迟缓。头颅超声检查和CT扫描显示的特征与无脑叶型前脑无裂畸形一致。第一名新生儿及其家庭成员的染色体核型分析正常。她们两人均接受了保守治疗和监护。
