RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164078297
T1 Melnick-Fraser Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164078297
RD 2024/04/18
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.