Article
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.
American journal of medical genetics. Part A - 1 Feb 2010
Weaver K Nicole, Rutledge Katherine D, Grant John H, Robin Nathaniel H
Abstract excerpt
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...
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