RECURRENCE OF HOLOPROSENCEPHALY IN FAMILIES WITH A POSITIVE HISTORY

  • 1 January 1983
    • journal article
    • research article
    • Vol. 24  (5) , 324-328
Abstract
A holoprosencephalic child was born into a family with 6 other affected members in 3 generations. A chromosome study of the proband was normal. The recurrence risk of holoprosencephaly was 22% in 1st degree relatives of affected individuals in this family. The recurrence risk was 22.9% for holoprosencephaly and 34.3% for holoprosencephaly and facial and neural defects when families with affected members in the medical literature in 2 generations were added. Dominant inheritance with reduced penetrance in family members best explains the inheritance pattern of familial holoprosencephaly.

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