title: Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.
abstract: Blepharocheilodontic (BCD) syndrome is a rare autosomal-dominant condition that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. It exhibits considerable phenotypic variability among affected individuals. An additional rare associated manifestation is imperforate a.u. (IA), which has been reported in three cases [Guyuron et al. (1995); J Craniofac Surg 6:392-394; Gorlin et al. (1996); Am J Med Genet 65:109-112; da Silva Lopes et al. (2003); Am J Med Genet Part A 121A:266-270]. Here we report on a family with BCD that includes IA, confirming that anorectal anomalies are a part of BCD syndrome.
authors.affiliation: University of Alabama School of Medicine, Birmingham, Alabama, USA.
authors.forename: K Nicole
authors.initials: KN
authors.lastname: Weaver
authors.forename: Katherine D
authors.initials: KD
authors.lastname: Rutledge
authors.forename: John H
authors.initials: JH
authors.lastname: Grant
authors.forename: Nathaniel H
authors.initials: NH
authors.lastname: Robin
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics*; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004483:Ectropion / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*