TY - CHAP M1 - Book, Section TI - Melnick-Fraser Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is a rare genetic disorder characterized by distinctive malformations of the head and facial area, with skin lesions and abnormalities of the eyes. It is characterized by a triad of symptoms that includes: (1) brachial fistulae or cysts; (2) Ear malformations; and (3) Kidney malformations (hypoplasia or agenesis). The clinical diagnostic is confirmed by the presence of bilateral renal dysplasia, Mendini-type cochlear malformation (hypoplasia of cochlear apex on CT scan), bilateral prehelical pits, and bilateral branchial cleft fistulas. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164078297 ER -