Confirmation of the Cohen syndrome.
In 1973 Cohen et al reported a new syndrome in two siblings and an unrelated individual, consisting of obesity, mental retardation, hypotonia, limb abnormalities, and a characteristic craniofacial appearance. Since then no similar cases have appeared in the literature. This report firmly establishes the Cohen syndrome as a distinct clinical entity by presenting four additional patients, including a sibling pair of normal parents, suggesting autosomal recessive inheritance. One of our four patients has normal intelligence, indicating that mental deficiency is a variable feature of the syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D003394:Craniofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000235:genetics; D009765:Obesity / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome