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小头畸形和腭裂的显性遗传综合征。

Dominantly inherited syndrome of microcephaly and cleft palate.

作者信息

Halal F

出版信息

Am J Med Genet. 1983 May;15(1):135-40. doi: 10.1002/ajmg.1320150118.

Abstract

Two sisters and their mother had a syndrome of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild mental retardation, and abnormal dermatoglyphics. This is an evidently dominantly inherited trait, either autosomal or X-linked.

摘要

两姐妹及其母亲患有小头畸形、腭裂综合征,伴有如特殊面容、眼距过窄、视网膜色素沉着异常、上颌骨发育不全、甲状腺肿、屈曲指、轻度智力障碍和皮纹异常等多种异常。这显然是一种显性遗传性状,可能是常染色体显性或X连锁显性。

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