Witteveen-Kolk syndrome: The first patient from Turkey

Witteveen-Kolk syndrome is a rare genetic disorder characterized by intellectual disability, developmental 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 patient of Witteveen-Kolk syndrome reported from Turkey.

Dergi

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Yıl

2021

Cilt

185

Sayı

2

Sayfa

617-619

ISSN

1552-4825

eISSN

1552-4833

DOI

10.1002/ajmg.a.61950

WoS UID

WOS:000584123800001