title: Holoprosencephaly: a family showing dominant inheritance and variable expression.
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.
authors.affiliation: Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton.
authors.forename: A L
authors.initials: AL
authors.lastname: Collins
authors.forename: P W
authors.initials: PW
authors.lastname: Lunt
authors.forename: C
authors.initials: C
authors.lastname: Garrett
authors.forename: N R
authors.initials: NR
authors.lastname: Dennis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002754:Choanal Atresia / Q000235:genetics; D003103:Coloboma / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005192:Family Health; D005260:Female; D015870:Gene Expression; D005799:Genes, Dominant; D014644:Genetic Variation; D005838:Genotype; D006579:Heterozygote; D016142:Holoprosencephaly / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D010641:Phenotype