We report on a sporadic case satisfied with a proposed diagnostic crit
eria for Cohen syndrome. This 10 year-old Japanese boy had truncal obe
sity, short stature, mild mental retardation, hypotonia, maxillary hyp
oplasia, micrognathia, narrow hands and feet, high-arched palate, prom
inent upper central incisors, high nasal bridge, but no pigmentary ret
inopathy. Autosomal recessive manner of inheritance was suggested by t
he pedigree.