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Peculiar face, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation; a new autosomal recessive syndrome?

作者信息

Ieshima A, Koeda T, Inagaki M

出版信息

Clin Genet. 1986 Aug;30(2):136-41. doi: 10.1111/j.1399-0004.1986.tb00583.x.

Abstract

Two siblings with peculiar facies, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation were reported. The similarity of both the dysmorphic features and the clinical course suggests a new syndrome, which inheritance is considered to be autosomal recessive.

摘要

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