对CHARGE综合征的重新评估。

Oley C A, Baraitser M, Grant D B

Clinical Genetics Unit, Hospitals for Sick Children, London.

J Med Genet. 1988 Mar;25(3):147-56. doi: 10.1136/jmg.25.3.147.

We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all had ear anomalies or deafness or both and either coloboma or choanal atresia or both. All the boys had evidence of hypogonadism. A characteristic facial appearance (unusually shaped ears, unilateral facial palsy, square face, malar flattening, pinched nostrils) was observed in many of our cases. The aetiology remains unknown. All our cases are sporadic.

我们描述了14名男孩和6名女孩，包括同卵双胞胎，他们患有CHARGE综合征。所有儿童至少具有记忆口诀CHARGE中包含的七个主要特征中的四个，并且都有耳部异常或耳聋或两者兼有，以及睑裂缺损或后鼻孔闭锁或两者兼有。所有男孩都有性腺功能减退的证据。在我们的许多病例中都观察到了特征性的面部外观（耳朵形状异常、单侧面瘫、方脸、颧骨扁平、鼻孔狭窄）。病因仍然不明。我们所有的病例都是散发性的。