Waardenburg Sendromu ve Proktokolit Birlikteliği Olan Bir Süt Çocuğu

Abstract

Waardenburg Sendromu konjenital sensorinöral sağırlık; bilateral soluk mavi gözler, heterokromi veya bir göz içinde iki renk; piebaldizm, parsiyel albinizm, distopia kantorum (iç kantusların laterale yer değiştirmesi) ile karakterizedir. Sendromun 4 tipi vardır. Literatürde Waardenburg Sendromuna eşlik eden proktokolit ile ilişkili veri bulunmamaktadır. Makalede 2 yaşında kız Waardenburg Sendromu tip 2 (iris heterokromisi, bilateral işitme kaybı) nedeni ile takipli hastada saptanan proktokolit ve amino asit bazlı mama kullanımı sonrası proktokolit bulgularının gerilemesi sunulmuştur.

Keywords

• Waardenburg sendromu,Konjenital,Sensörinöral,İşitme kaybı,Heterokromi

Waardenburg Syndrome and Proctocolitis Association in a Infant

Abstract

The Waardenburg Syndrome is characterized by congenital sensorineural deafness, bilateral pale blue eyes, heterochromia or two colors in the same eye, piebaldism, partial albinism, and dystopia cantorum (lateral displacement of inner canthi). There are 4 types of the syndrome. There is no literature data on proctocolitis associated with Waardenburg Syndrome. In this article, we present the results of a 2-year-old female patient with Waardenburg syndrome type 2 (iris heterochromia, bilateral hearing loss) and proctocolitis and discuss the decrease in proctocolitis findings with amino acid-based food use.

Keywords

• Waardenburg syndrome,Congenital,Sensorineural,Hearing loss,Heterochromia

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