The Cohen syndrome: report of a case.
We report on a sporadic case satisfied with a proposed diagnostic criteria for Cohen syndrome. This 10 year-old Japanese boy had truncal obesity, short stature, mild mental retardation, hypotonia, maxillary hypoplasia, micrognathia, narrow hands and feet, high-arched palate, prominent upper central incisors, high nasal bridge, but no pigmentary retinopathy. Autosomal recessive manner of inheritance was suggested by the pedigree.
Naritomi
K
K
Department of Pediatrics, University of the Ryukyus School of Medicine, 207 Uehara, Nishihara, Okinawa 903-01, Japan.
Chinen
Y
Y
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D013577:Syndrome