COHEN SYNDROME - THE CLINICAL SYMPTOMS AND STIGMATA AT A YOUNG AGE

We present the clinical findings and follow-up data of four female chi ldren with Cohen syndrome, two sisters and one pair of dizygotic femal e twins. The most characteristic findings from birth on were as follow s: 1. Low-normal growth parameters at birth. 2. Mild hypotonia and evi dence of progressive microcephaly with narrow forehead in the first ye ar of life. 3. Neutropenia was present from the beginning, remained un changed over the years and is not associated with higher susceptibilit y to infections. 4. Autistic behavior and severe psychomotor retardati on up to the age of 2 years. At that age the ocular anomalies with hig h-grade myopia and chorioretinal dystrophy were diagnosed. Correction of the myopia resulted in a marked catch-up in psychomotor development . 5. After the age of 6 years facial stigmata became more evident with short philtrum of the upper lip and broad and large upper incisors. 6 . Tendency to truncular obesity with rest hypotonia and poor muscle de velopment after the ages of 6 to 8 years. The clinical findings and fo llow-up data in the present four children with Cohen syndrome illustra te that the diagnosis of Cohen syndrome in infancy is very difficult.