Cohen syndrome : two new cases in siblings

• Published in: European journal of pediatrics Vol. 158; no. 10; pp. 838 - 841
• Main Authors: THOMAIDIS, L, FRYSSIRA, H, KATSAROU, E, METAXOTOU, C
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.10.1999; Berlin Springer Nature B.V
• Subjects: Abnormalities, Multiple - genetics; Agranulocytosis - genetics; Biological and medical sciences; Child; Child clinical studies; Developmental disorders; Female; Genes, Recessive; Humans; Intellectual deficiency; Intellectual Disability - genetics; Male; Medical sciences; Myopia - genetics; Obesity - genetics; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Syndrome; Human; Obesity; Vision disorder; Nutrition disorder; Myopia; Developmental disorder; Mental retardation; Twin; Case study; Eye disease; Refractive error; Intellectual deficiency; Child; Nutritional status
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/s004310051218

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.