母亲同型胱氨酸尿症与莫比乌斯综合征？血管病因。
Maternal homocystinuria and Moebius syndrome? Vascular aetiology.
作者信息
Gupta N, Anthony M Y
机构信息
Neonatal Unit, John Radcliffe Hospital, Oxford, UK.
出版信息
BMJ Case Rep. 2011 Feb 14;2011:bcr0920103331. doi: 10.1136/bcr.09.2010.3331.
Abstract
A case of Moebius syndrome is reported in an infant of a mother known to have pyridoxine-unresponsive homocystinuria. The authors suggest that Moebius syndrome could result from early vascular insufficiency or disruption occurring early in development related to maternal homocystinuria. Moebius syndrome consists of congenital complete or partial facial nerve palsy with or without paralysis of other cranial nerves and often in association with other malformations of the limbs and orofacial structures, but usually without gross structural brain abnormalities.
摘要
据报道，一名患有吡哆醇无反应性高胱氨酸尿症的母亲所生婴儿患有默比厄斯综合征。作者认为，默比厄斯综合征可能是由于与母亲高胱氨酸尿症相关的早期血管功能不全或发育早期发生的发育中断所致。默比厄斯综合征包括先天性完全或部分面神经麻痹，伴有或不伴有其他颅神经麻痹，且常与肢体和口面部结构的其他畸形相关，但通常无明显的脑结构异常。
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