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.