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  • Title: Confirmation of the Cohen syndrome.
    Author: Carey JC, Hall BD.
    Journal: J Pediatr; 1978 Aug; 93(2):239-44. PubMed ID: 671157.
    Abstract:
    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.
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