Witteveen–Kolk syndrome: The first patient from
Turkey
期刊名称： American Journal of Medical Genetics Part A
作者： Pelin Ercoskun,Cigdem Yuce Kahraman
作者机构： Faculty of Medicine, Department of Medical Genetics Ataturkwavin flag knaan
University Erzurum Turkey
年份： 2020年
关键词： developmental delay;intellectual disability;malformed
ears;SIN3A;Witteveen–Kolk syndrome
摘要：Witteveen-Kolk syndrome is a rare genetic disorder characterized by intellectual disability, develop
mental delay and dysmorphic facial features including a long face with prominent forehead, depressed nasal bridge, long-smooth philtrum and malformed ears. Skeletal abnormalities, microcephaly and malformation of the brain are other findings. This syndrome is caused by mutations in the SIN3A gene or microdeletions encompassing this gene. The protein encoded by SIN3A gene plays a regulatory role in the control of various developmental processes, especially cortical expansion and maturation. To date, 17 patients have been reported in the medical literature. In this article, we reported a patient with Witteveen-Kolk syndrome who had a retrognathia as an unusually finding. To the best of our knowledge, this is the first