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Velo-cardio-facial syndrome presenting as holoprosencephaly.

作者信息

Wraith J E, Super M, Watson G H, Phillips M

出版信息

Clin Genet. 1985 Apr;27(4):408-10. doi: 10.1111/j.1399-0004.1985.tb02284.x.

Abstract

A baby with holoprosencephaly and the tetralogy of Fallot is described. The mother had operative correction of the same cardiac lesion and shows features typical of the velo-cardio-facial syndrome, an autosomal dominant disorder. The association between holoprosencephaly and this condition has not been previously reported. When holoprosencephaly is found associated with congenital heart disease, velo-cardio-facial syndrome should be sought in other family members.

摘要

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