{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T14:00:50Z","timestamp":1778853650932,"version":"3.51.4"},"reference-count":19,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,8,17]]},"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:p>Myhre syndrome is a rare disorder characterised by short stature, skeletal anomalies, facial dysmorphism and hearing loss (HL), resulting from heterozygous mutations of the <jats:italic>SMAD4<\/jats:italic> gene. We describe the benefits of cochlear implant (CI) in a patient with sensorineural HL carrying a mutation (NM_005359.6: c.1498A&gt;G; p.lle500Val) within the <jats:italic>SMAD4<\/jats:italic> gene, detected by whole-exome sequencing. The CI was inserted through the round window despite otospongiotic abnormalities. Pure-tone audiometry improved up to 20 dBHL. Speech perception in noise (Simplified Noise Reduction - SNR +10) increased from 0% pre implantation with hearing aids to 50% post implantation. The postoperative setting of the electrical stimulation limits yielded an asymmetric map, with lower levels for central electrodes and higher levels for lateral ones. Action potential could not be evoked via medial electrodes, suggesting a cochlear nerve dysfunction. Outcomes related to quality of life and cognitive impairment improved. CI was shown to be an effective auditory rehabilitation strategy.<\/jats:p>","DOI":"10.1136\/bcr-2021-243164","type":"journal-article","created":{"date-parts":[[2021,8,25]],"date-time":"2021-08-25T13:10:13Z","timestamp":1629897013000},"page":"e243164","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Benefit of cochlear implantation in a patient with Myhre syndrome"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9756-1880","authenticated-orcid":false,"given":"Tiziana","family":"Di Cesare","sequence":"first","affiliation":[{"name":"Otorhinolaryngology, Foundation Polyclinic University A. Gemelli IRCCS, Rome, Lazio, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgia","family":"Rossi","sequence":"additional","affiliation":[{"name":"Otorhinolaryngology, Foundation Polyclinic University A. Gemelli IRCCS, Rome, Lazio, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgia","family":"Girotto","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Friuli-Venezia Giulia, Italy"},{"name":"Medical Genetics, Institute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, Friuli-Venezia Giulia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter","family":"Di Nardo","sequence":"additional","affiliation":[{"name":"Otorhinolaryngology, Foundation Polyclinic University A. Gemelli IRCCS, Rome, Lazio, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,8,25]]},"reference":[{"key":"2025082623454017000_14.8.e243164.1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1981.tb01798.x","article-title":"A new growth deficiency syndrome","volume":"20","author":"Myhre","year":"1981","journal-title":"Clin Genet"},{"key":"2025082623454017000_14.8.e243164.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37739"},{"key":"2025082623454017000_14.8.e243164.3","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1007\/s00431-016-2761-3","article-title":"Natural history and life-threatening complications in Myhre syndrome and review of the literature","volume":"175","author":"Garavelli","year":"2016","journal-title":"Eur J Pediatr"},{"key":"2025082623454017000_14.8.e243164.4","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12365"},{"key":"2025082623454017000_14.8.e243164.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1016"},{"key":"2025082623454017000_14.8.e243164.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.011"},{"key":"2025082623454017000_14.8.e243164.7","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5366.1086"},{"key":"2025082623454017000_14.8.e243164.8","doi-asserted-by":"publisher","DOI":"10.1634\/theoncologist.2018-0143"},{"key":"2025082623454017000_14.8.e243164.9","doi-asserted-by":"crossref","first-page":"72","DOI":"10.3389\/fped.2020.00072","article-title":"Myhre syndrome associated with Dunbar syndrome and urinary tract abnormalities: a case report","volume":"8","author":"Varenyiova","year":"2020","journal-title":"Front Pediatr"},{"key":"2025082623454017000_14.8.e243164.10","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1779-6"},{"key":"2025082623454017000_14.8.e243164.11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36544"},{"key":"2025082623454017000_14.8.e243164.12","doi-asserted-by":"crossref","first-page":"2494","DOI":"10.1002\/ajmg.a.61377","article-title":"Myhre syndrome: a first familial recurrence and broadening of the phenotypic spectrum","volume":"179","author":"Meerschaut","year":"2019","journal-title":"Am J Med Genet A"},{"key":"2025082623454017000_14.8.e243164.13","unstructured":"Starr LJ , Lindor NM , Lin AE . Myhre Syndrome. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae [Internet]. 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