New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies.
We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis.
Finucane
B
B
Medical Department of Elwyn, Inc., Pennsylvania 19063.
Kurtz
M B
MB
Scott
C I
CI
D000374:Aggression; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002653:Child Behavior Disorders / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D005260:Female; D034381:Hearing Loss / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D013577:Syndrome