title: Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
abstract: We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.
authors.affiliation: Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: P N
authors.initials: PN
authors.lastname: McDougall
authors.forename: L J
authors.initials: LJ
authors.lastname: Sheffield
mesh_terms: D002754:Choanal Atresia / Q000150:complications*; D002871:Chromosome Banding; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D004476:Ectodermal Dysplasia / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D013576:Syndactyly / Q000150:complications; D013577:Syndrome