Fatal Seyirli Bir Neonatal CHARGE Sendromu Olgusu ve Kısa Literatür Taraması

Abstract

Bu makalede, yenidoğan döneminde ölümcül seyreden bir CHARGE sendromu vakası sunulmuştur ve kısa bir literatür taraması yapılmıştır. Böylece CHARGE sendromlu bireylerin yaşamlarının erken dönemlerinde karşılaştıkları konjenital anomalilerin ve klinik semptomların çok çeşitli oluşunun altı çizilmek istenmiştir. Karakteristik dismorfik yüz özellikleri, konjenital kalp hastalığı ve şiddetli beslenme intoleransı ile bu hasta, sendromun çok sayıda organ-sistemi etkileyerek ne kadar karmaşık olabileceğinin ve tanı almayan çok hafif fenotipte olgular bulunmakla birlikte, ciddi erken ölümcül vakalarla da sonuçlanabileceğinin iyi bir örneğidir.

Keywords

• CHARGE sendromu
• yenidoğan
• fenotipik değişkenlik
• genetik tanı

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

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 syndrome
• newborn
• phenotypic variability
• genetic testing

References

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