Zeynep Kamil Med J. 2016; 47(1): 27-29 | DOI: 10.16948/zktb.29167

Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome: Case Report

Ali Karaman¹, Hasan Kahveci², Selin Karaman³, Hatip Aydýn¹, Arda Çetinkaya^1
1Zeynep Kamil Women and Children Training and Research Hosp, Dept. of Medical Genetics, Istanbul, Turkey
²Nenehatun Obstetrics and Gynecology Hospital, Neonatal Intensive Care Unit, Erzurum, Turkey
³Dr. Lütfi Kýrdar Kartal Training and Research Hospital, Department of Family Medicine, Ýstanbul, Turkey

Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by a wide range of dysmorphic features, including microcephaly, progressive neurologic disorder, optic atrophy, mental retardation, progressive joint contractures and growth failure.

Keywords: Cerebro-oculo-facio-skeletal syndorme, microcephaly, progressive joint contractures

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