IDENTICAL-TWINS WITH COHEN SYNDROME

We report the first case of identical female twins who satisfy the pro posed diagnostic criteria for Cohen syndrome. The sisters presented wi th retinal degeneration, obesity and mental retardation, and had the c haracteristic facial appearance. The manifestations of previously repo rted cases of Cohen syndrome are reviewed. Unusual changes in our pati ents include tall stature, macrocephaly, and transient cardiomyopathy during the first year of Life. These anomalies have been reported prev iously in other patients with Cohen syndrome, and suggest that the dis order is phenotypically heterogeneous. Precocious puberty was present in both girls; the latter findings have not been reported previously i n the Cohen syndrome. Detailed metabolic and cytogenetic analysis demo nstrated no abnormalities. (C) 1995 Wiley-Liss, Inc.