[MCA/MR anomaly--case report]

MCA/MR (Cohen syndrome) is a multiple congenital anomalies retardation syndrome with autosomal recessive inheritance. The clinical criteria are nonspecific. The diagnosis was based on the triad: hypotonia, truncal obesity and prominent central incisors. Added to the clinical spectrum ophthalmologic findings such as antymongoloid eye slant and retinal changes, are very important to diagnosis.

The authors present a case of 11-year-old boy with MCA/MR.

In this patient we found decreased visual acuity, myopia and retinal abnormalities.

Cohen syndrome is a congenital anomaly with general and ophthalmological findings.