שאלה משלב א׳ בא.א.ג וכירורגיה של ראש וצוואר · מועד 2020, שאלה 77

A lateral cervical pit (a branchial cleft sinus) with mixed hearing loss in a 2-year-old is branchio-oto-renal syndrome (EYA1, SIX1, SIX5 mutations), so a RENAL ULTRASOUND is required to look for renal dysplasia, agenesis or hypoplasia and duplication of the collecting system, with renal function assessment. ECG belongs to the work-up of Jervell and Lange-Nielsen syndrome, eye examination to Usher and CHARGE, and thyroid studies to Pendred syndrome.

מקור: ילדים2285