title: Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation.
abstract: We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent ear lobes, high-arched palates, abnormal EEG, and severe mental retardation. Both cousins have consanguineous parents. Differential diagnoses are discussed and the possibility that we might be reporting on a new syndrome is raised.
authors.affiliation: Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004569:Electroencephalography; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009896:Optic Atrophy / Q000151:congenital / Q000235:genetics / Q000473:pathology; D013577:Syndrome