Short stature, craniofacial dysmorphism and dento-skeletal abnormalities in a large kindred. A variant of K.B.G. syndrome or a new mental retardation syndrome.
A possibly new mental retardation syndrome is described in a large family. The major features of the syndrome are: short statue, craniofacial dysmorphism and dento-skeletal abnormalities. The mode of inheritance of this syndrome appears to be autosomal dominant with a variable degree of expressivity. The possible similarity to another autosomally dominant inherited mental retardation syndrome, "the K.B.G. syndrome" as described by Hermann et al. (1975), is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*