Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.
Three patients with features of the Cohen Syndrome are reported. Main facial features are prominent nasal bridge, short philtrum, prominent upper central incisors, and retrogenia. There is microcephaly and short stature. Truncal obesity appears in mid childhood. Mental retardation seems to be severe. There is marked variability among the as yet reported cases. The best diagnostic criteria seem to be the typical face and mental retardation. As yet 3 affected sibs, offspring of healthy, non consanguineous parents are reported, as well as 8 sporadic cases. The condition seems inherited as auto-somal recessive. The variability of this condition is discussed.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis; D009123:Muscle Hypotonia / Q000175:diagnosis*; D009765:Obesity / Q000175:diagnosis*; D013577:Syndrome