Congenital 'frozen eyes', with other mesodermal abnormalities: report of a case.

A Arruga, A S Henriquez, A M Delachaux
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Abstract

A case is reported of a 41/2-year-old girl with generalized fibrosis, no active or passive eye movements, anisohyperopia, craniofacial asymmetry and hypoplasia of a toe. There was no ptosis, nor backward head tilt and only a moderate exotropia. Study of the fixation and of the binocular relationship met with unusual difficulties owing to the absence of eye movements. Mesodermal abnormalities were noted in the anterior chamber. A normal female karyotype was reported and family history was noncontributory.

先天性“冻眼”伴其他中胚层异常1例报告。
本文报告1例41岁半女童的全身性纤维化,无主动或被动眼球运动,各向异性视,颅面不对称和脚趾发育不全。没有上睑下垂,也没有向后倾斜的头,只有中度的外斜视。由于没有眼球运动,固定和双眼关系的研究遇到了不同寻常的困难。前房可见中胚层异常。报告女性核型正常,家族史无关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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