E-ISSN 2757-8062
Volume: 53 Issue: 4 Year: 2022

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Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome: Case Report [Zeynep Kamil Med J]
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 Aydın1, Arda Çetinkaya1
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 Kırdar Kartal Training and Research Hospital, Department of Family Medicine, İstanbul, 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

Ali Karaman, Hasan Kahveci, Selin Karaman, Hatip Aydın, Arda Çetinkaya. Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome: Case Report. Zeynep Kamil Med J. 2016; 47(1): 27-29

Corresponding Author: Ali Karaman, Türkiye
Manuscript Language: English
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