Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: a new syndrome.
We describe three siblings who presented with short stature, hyperactivity, delayed speech and moderate psychomotor retardation. In addition, they had dysmorphic features, a peculiar combination of skeletal abnormalities, small kidneys and exaggerated fasting ketosis. We suggest that they represent a new syndrome. The possibility of end-organ receptor failure is suggested.
Boneh
A
A
Department of Paediatrics, Hadassah University Hospitals, Mt. Scopus, Jerusalem, Israel. boneh@cc.huji.ac.il
Glick
B
B
Gutman
A
A
Mogle
P
P
D000015:Abnormalities, Multiple / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology* / Q000523:psychology; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000503:physiopathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability; D007662:Ketosis / Q000503:physiopathology; D008297:Male; D011596:Psychomotor Disorders; D013577:Syndrome