Velo‐cardio‐facial syndrome presenting as holoprosencephaly

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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.