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Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome.

作者信息

Kirkham T H, Milot J, Berman P

出版信息

Am J Ophthalmol. 1975 Mar;79(3):441-5. doi: 10.1016/0002-9394(75)90619-4.

DOI:10.1016/0002-9394(75)90619-4
PMID:235844
Abstract

Four boys with facial-digital-genital or Aarskog syndrome were whort with triangular faces, characteristic deformities of the hands and feet, and anomalies of the external genitalia. The syndrome appears to be inherited in an X-chromosomes-limked recessive manner. Previous reports emphasized the presence of hypertelorism but careful measurements of the interorbital dimensions revealed primary telecanthus in addition to hypertelorism. The palpebral fissures had a marked antimongoloid obliquity and in half the reported cases, there was unilateral or bilateral congenital blepharoptosis. Strabismus, hyperopic astigmatism, and large corneas may be additional features.

摘要

相似文献

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