Cohen syndrome: two new cases in siblings.

[cohen syndrome]

Cohen syndrome is a rare genetic disorder consisting of truncal obesity , hypotonia , mental retardation , characteristic facial appearance and ocular anomalies . Other diagnostic clinical features include narrow hands and feet , low growth parameters , neutropenia and chorioretinal dystrophy . We describe the similarities in the clinical and developmental profile of two siblings with Cohen syndrome , providing evidence for autosomal recessive inheritance in this condition .The diagnosis of Cohen syndrome should be suspected in mentally retarded children with the above characteristics . Neutropenia and ocular anomalies with high -grade myopia and chorioretinal dystrophy are also considered important findings and can aid in the clinical diagnosis especially at an early age .