Familial achalasia, microcephaly, and mental retardation. Case report and review of literature.
Two Libyan brothers with achalasia of the cardia, microcephaly, and mental retardation are described. The parents were first cousins and were normal, as were two other male siblings and the female twin of one of the affected brothers. This is the second family to be reported with this constellation of abnormalities. The literature is reviewed for achalasia associated with other pathological conditions.
D002648:Child; D004931:Esophageal Achalasia / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome