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 feel, 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.
Conclusion 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
