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Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).

作者信息

Wilcox L M, Bercovitch L, Howard R O

出版信息

Am J Ophthalmol. 1978 Dec;86(6):834-9. doi: 10.1016/0002-9394(78)90132-0.

Abstract

By using the Giemsa banding technique we identified three patients with chromosome deletion 4p-. All had anterior segment anomalies, exotropia, blepharoptosis, antimongoloid palpebral fissures, hypertelorism, and disk abnormalities. One patient (Case 1) had Rieger's anomaly. Some clinical features in patients with 4p- are similar to those in patients with chromosome deletion 5p-, cri-du-chat syndrome, although 4p- individuals do not have the distinctive cry. The ocular features which distinguish 4p- from other deletions include normal tearing, some degree of blepharoptosis, and the preponderance of anterior segment signs.

摘要

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