Further delineation of the KBG syndrome.
Further Delineation of the KBG syndrome: We present a mother and her daughter with clinical features of KBG syndrome, including mild mental retardation, distinct facial features, macrodontia and skeletal anomalies. In the daughter, a heart defect (ventricular septal defect) was present.
Center for Human Genetics, University Hospital Leuven, Belgium.
K
K
Devriendt
M
M
Holvoet
J P
JP
Fryns
D000015:Abnormalities, Multiple; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D005145:Face / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005190:Family; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011859:Radiography; D013577:Syndrome