PT  - JOURNAL ARTICLE
AU  - A L Collins
AU  - P W Lunt
AU  - C Garrett
AU  - N R Dennis
TI  - Holoprosencephaly: a family showing dominant inheritance and variable expression.
AID  - 10.1136/jmg.30.1.36
DP  - 1993 Jan 01
TA  - Journal of Medical Genetics
PG  - 36--40
VI  - 30
IP  - 1
4099  - http://jmg.bmj.com/content/30/1/36.short
4100  - http://jmg.bmj.com/content/30/1/36.full
SO  - J Med Genet1993 Jan 01; 30
AB  - 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.