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. 1993 Jan;30(1):36–40. doi: 10.1136/jmg.30.1.36

Holoprosencephaly: a family showing dominant inheritance and variable expression.

A L Collins 1, P W Lunt 1, C Garrett 1, N R Dennis 1
PMCID: PMC1016231  PMID: 8423605

Abstract

A family with probable dominant holoprosencephaly is presented with five affected subjects in two sibships, the offspring of healthy sisters who are presumed gene carriers. Of the affected children, three had cebocephaly and died shortly after birth. One had left choanal atresia, retinal coloboma, a single central maxillary incisor, microcephaly, short stature, and learning problems. Another had only a single central maxillary incisor. The occurrence of hypotelorism, microcephaly, and unilateral cleft lip and palate as minor manifestations of the gene in possible and probable gene carriers is discussed.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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