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Article
December 1974

Holoprosencephaly

Author Affiliations

Departments of Medical Genetics and Paediatrics University of British Columbia Vancouver, British Columbia, Canada

Am J Dis Child. 1974;128(6):887. doi:10.1001/archpedi.1974.02110310135030
Abstract

Sir.—In the April issue of the Journal, M. Michael Cohen, Jr., DMD (127:597, 1974) brought out some very important points with regard to genetic counseling in holoprosencephaly. Some additional information on the mother of one of the patients of Patel et al1 may be of interest. They correctly noted the presence of orbital hypotelorism, but in addition, the mother had a single, centrally placed medial incisor (Figure). No teeth had been lost due to disease or injury. This sign may be an additional piece of evidence suggesting an autosomal dominant gene with variable expressivity and, thus, the recurrence risk in subsequent pregnancies may be substantial.

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