U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Deafness, with smith-magenis syndrome

MedGen UID:
865240
Concept ID:
C4016803
Finding
Synonym: DEAFNESS, WITH SMITH-MAGENIS SYNDROME
 
OMIM®: 602666

Recent clinical studies

Etiology

Brennan C, Smith ML, Baiduc RR, O'Connor L
J Speech Lang Hear Res 2024 Mar 11;67(3):917-938. Epub 2024 Feb 7 doi: 10.1044/2023_JSLHR-23-00179. PMID: 38324273
Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorges F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier-Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin-Robinet C, Faivre L, Perrin L, Verloes A
Clin Genet 2021 Apr;99(4):519-528. Epub 2021 Jan 5 doi: 10.1111/cge.13906. PMID: 33368193
Brendal MA, King KA, Zalewski CK, Finucane BM, Introne W, Brewer CC, Smith ACM
J Speech Lang Hear Res 2017 Apr 14;60(4):1076-1087. doi: 10.1044/2016_JSLHR-H-16-0024. PMID: 28384694Free PMC Article
Сhurbanov AY, Karafet TM, Morozov IV, Mikhalskaia VY, Zytsar MV, Bondar AA, Posukh OL
PLoS One 2016;11(4):e0153841. Epub 2016 Apr 15 doi: 10.1371/journal.pone.0153841. PMID: 27082237Free PMC Article

Diagnosis

Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorges F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier-Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin-Robinet C, Faivre L, Perrin L, Verloes A
Clin Genet 2021 Apr;99(4):519-528. Epub 2021 Jan 5 doi: 10.1111/cge.13906. PMID: 33368193
Brendal MA, King KA, Zalewski CK, Finucane BM, Introne W, Brewer CC, Smith ACM
J Speech Lang Hear Res 2017 Apr 14;60(4):1076-1087. doi: 10.1044/2016_JSLHR-H-16-0024. PMID: 28384694Free PMC Article
Сhurbanov AY, Karafet TM, Morozov IV, Mikhalskaia VY, Zytsar MV, Bondar AA, Posukh OL
PLoS One 2016;11(4):e0153841. Epub 2016 Apr 15 doi: 10.1371/journal.pone.0153841. PMID: 27082237Free PMC Article
Guevara-Campos J, González-Guevara L, Briones P, López-Gallardo E, Bulán N, Ruiz-Pesini E, Ramnarine D, Montoya J
Invest Clin 2010 Sep;51(3):423-31. PMID: 21302592
Di Cicco M, Padoan R, Felisati G, Dilani D, Moretti E, Guerneri S, Selicorni A
Int J Pediatr Otorhinolaryngol 2001 Jun 7;59(2):147-50. doi: 10.1016/s0165-5876(01)00475-x. PMID: 11378192

Clinical prediction guides

Brendal MA, King KA, Zalewski CK, Finucane BM, Introne W, Brewer CC, Smith ACM
J Speech Lang Hear Res 2017 Apr 14;60(4):1076-1087. doi: 10.1044/2016_JSLHR-H-16-0024. PMID: 28384694Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...