The KBG syndrome: follow-up data on three affected brothers.
In this report we present follow-up data on a family in which several members were found to have short stature, craniofacial anomalies and dento-skeletal abnormalities (KBG-syndrome). As adults, the three affected brothers of the original report are moderately to severely mentally retarded. Their phenotype with a distinct craniofacial appearance did not change much from that seen during childhood and adolescence. Adult height is far below the third centile, with arm spans exceeding stature by at least 9 cm.
Soekarman
D
D
Centre for Human Genetics, University of Leuven, Belgium.
Volcke
P
P
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004392:Dwarfism / Q000151:congenital*; D005145:Face / Q000002:abnormalities*; D005500:Follow-Up Studies; 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