Akademik Veri Yönetim Sistemi
6. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Türkiye, 16 - 18 Eylül 2021, ss.47
Mustafa Yılmaz, Büşra Saruhan, Abdulgani Tatar, Çiğdem Yüce Kahraman
Branchiootic syndrome is a rare autosomal dominant condition, characterised by malformations of the outer, middle and inner ear, associated with branchial abnormalities, such as clefts, fistulae and cysts. The related condition of branchiootorenal syndrome, which additionally features renal abnormalities as severe as renal agenesis, is an important differential.
Two siblings had hearing loss at the ages of 7 and 8 respectively were dispatched to us.Both children had hearing and speech problems.When the family history was deepened, the father of his children had similar complaints.Besides, It was also learned that he had been operated on for a wound that caused discharge on his neck.Bilateral brankial cleft fistula was observed in the examination of the children.However, preauricular pits were detected on both sides.The siblings, whose urinary system ultrasonography showed no abnormalities, were initially thought to have Braankiootic syndrome.Finally, heterozygous mutation was detected as a result of EYA1 gene sequence analysis of blood samples taken from both siblings.
Branchiootoic syndrome represents part of the spectrum of Branchiootorenal, where outer, middle, or inner ear anomalies and branchial anomalies are not associated with renal malformations. The clinical presentation in individuals affected by Branchiootorenal is very variable because penetrance is high but incomplete, demonstrating variable expressivity between and within affected families. The Branchiootorenal phenotype is typically described to include cup-shaped pinnae, preauricular pits, branchial fistulae, and mild renal anomalies. However, preauricular tags; renal aplasia or agenesis; a deep overbite; and a long, narrow face have also been described in these patients
Keywords: Branchiootic syndrome, Branchial cleft fistulas, EYA1