Fatal Seyirli Bir Neonatal CHARGE Sendromu Olgusu ve Kısa Literatür Taraması

Author:

SİRMA DOKUZBOY Refika1ORCID,SARI Fatma Nur1ORCID,CAKAR Esra Sukran1ORCID,IŞIK Şehribanu1ORCID,YAZICI Aybüke1ORCID,ALYAMAC DİZDAR Evrim1ORCID

Affiliation:

1. TÜRKİYE CUMHURİYETİ SAĞLIK BAKANLIĞI, ANKARA ŞEHİR HASTANESİ

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.

Publisher

Ministry of Health, Ankara City Hospital

Subject

General Medicine

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