A Fatal Neonatal Case of CHARGE Syndrome and Mini-Review of the Literature

Authors : Refika SİRMA DOKUZBOY, Fatma Nur SARI, Esra Sukran CAKAR, Şehribanu IŞIK, Aybüke YAZICI, Evrim ALYAMAC DİZDAR

Pages : 1956-1958

Doi:10.38136/jgon.1037244

View : 42 | Download : 32

Publication Date : 2023-10-01

Article Type : Other Papers

Abstract :In this article, we aim to represent a neonatal fatal case of CHARGE syndrome and make a mini-review of the literature to underline the wide range of congenital abnormalities and clinical symptoms of individuals with CHARGE syndrome face early in life. This patient, with his characteristic dysmorphic features, congenital heart defects, and severe feeding intolerance, is a good example of how complex the syndrome could be. CHARGE syndrome might affect numerous organ systems and result in severe early lethal cases for some, while some of the cases show a very mild phenotypic spectrum and may go unrecognized.
Keywords : CHARGE sendromu, yenidoğan, fenotipik değişkenlik, genetik tanı