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一名患有正中面裂畸形和双侧眼耳脊椎综合征的患者。

A patient with median cleft face anomaly and bilateral Goldenhar anomaly.

作者信息

Musarella M A, Young I D

机构信息

Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.

出版信息

Am J Med Genet Suppl. 1986;2:135-41. doi: 10.1002/ajmg.1320250617.

Abstract

We describe a girl with a median cleft face anomaly and oculoauriculovertebral "dysplasia" (bilateral Goldenhar anomaly). The facial anomalies in this child are thought to be due to malfusion of neural crest cells of midline, lateral, and oblique facial processes. Disturbances of these migrating waves of neural crest cells may result in maldevelopment of the intercanthal area, nose, lip, palate, lower eyelid, and lateral aspect of mouth and ear. Except for cleft palate, all of these anomalies are present in this case. The child might have a new "syndrome" which we propose be called oculoauriculofrontonasal anomaly.

摘要

我们描述了一名患有正中面裂畸形和眼耳脊椎“发育不良”(双侧Goldenhar畸形)的女孩。该患儿的面部异常被认为是由于中线、外侧和斜面部突起的神经嵴细胞融合不良所致。这些神经嵴细胞迁移波的紊乱可能导致内眦区域、鼻子、嘴唇、腭、下眼睑以及嘴巴和耳朵外侧的发育异常。除腭裂外,所有这些异常在该病例中均有出现。该患儿可能患有一种新的“综合征”,我们建议将其称为眼耳额鼻异常。

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