[牵牛花盘状异常与额鼻发育不全]

[Morning glory disc anomaly und frontonasal dysplasia].

作者信息

Papageorgiou E, Schiefer U, Warmuth-Metz M, Weckerle P

机构信息

Abt. für Pathophysiologie des Sehens und Neuroophthalmologie, Universitätsaugenklinik Tübingen, Schleichstrasse 12-16, 72076, Tübingen, Deutschland.

出版信息

Ophthalmologe. 2007 Aug;104(8):709-12. doi: 10.1007/s00347-007-1488-y.

DOI:10.1007/s00347-007-1488-y

PMID:17440733

Abstract

Morning glory disc anomaly (MGDA) is a rare congenital malformation of the optic disc, which can be associated with midline craniofacial abnormalities, such as basal encephalocele. A female neonate presented with MGDA in the right eye, pendular nystagmus, hypertelorism, a flattened nasal root and cleft lip and palate. MRI revealed a basal encephalocele, agenesis of the corpus callosum and ventricular enlargement. MGDA combined with midline facial clefting should always lead to the suspicion of a basal encephalocele.

摘要

牵牛花盘状异常（MGDA）是一种罕见的视盘先天性畸形，可伴有中线颅面异常，如基底脑膨出。一名女新生儿出现右眼MGDA、钟摆样眼球震颤、眼距过宽、鼻根扁平以及唇腭裂。磁共振成像（MRI）显示基底脑膨出、胼胝体发育不全和脑室扩大。MGDA合并中线面部裂应始终引起对基底脑膨出的怀疑。