Cohen syndrome with insulin resistance and seizure


Atabek M., Keskin M. , Kurtoglu S. , Kumandaş S.

PEDIATRIC NEUROLOGY, cilt.30, ss.61-63, 2004 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 30 Konu: 1
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1016/s0887-8994(03)00309-6
  • Dergi Adı: PEDIATRIC NEUROLOGY
  • Sayfa Sayıları: ss.61-63

Özet

Cohen syndrome is a rare, genetic, connective-tissue disorder with the genetic abnormality linked to chromosome 8q22. The diagnosis of Cohen syndrome is based on the recognition of certain clinical findings, which include mental retardation, typical morphologic stigmata (e.g., truncal obesity, hypotonia, short philtrum, prominent frontal incisors, high-arched palate, narrow hands and feet), and characteristic ophthalmologic abnormalities. We report a patient manifesting the typical characteristics of Cohen syndrome with seizure and hyperinsulinemia. (C) 2004 by Elsevier Inc. All rights reserved.