Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome?
Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardation is emphasised.
D000293:Adolescent; D000328:Adult; D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*