title: Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case.
abstract: The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation. This report presents a sporadic case of the Rieger syndrome, the findings in which include the characteristic ocular anomalies, shortness of stature, mental retardation, absent dental defects and a peculiar, heretofore unobserved, myopathy.
mesh_terms: D000015:Abnormalities, Multiple; D003315:Cornea / Q000002:abnormalities; D004476:Ectodermal Dysplasia; D005124:Eye Abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007498:Iris / Q000002:abnormalities*; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009056:Mouth Abnormalities / Q000150:complications; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications / Q000473:pathology; D013064:Speech Disorders / Q000150:complications; D013577:Syndrome