Hearing loss in the Saethre-Chotzen syndrome

Ensink, R.J.H.; Marres, H.A.M.; Brunner, Han G.; Cremers, C.W.R.J.

doi:10.1017/s0022215100135443

Cited by 14 publications

(9 citation statements)

References 15 publications

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“…The hearing defect is usually conductive (Clauser et al, 2004) and can be due to stapes ankylosis, fixed ossicular chain, microtia or enlarged vestibules (sometimes associated to a small epitympanum and small or even absent mastoids) (Ensink et al, 1996). Mixed hearing loss due to brain stem anomalies has also been described (Lamonica et al, 2010).…”

Section: Saethre-chotzen Syndromementioning

confidence: 99%

Genetic Hearing Loss Associated with Craniofacial Abnormalities

Lunardi¹,

Forlì²,

Michelucci³

et al. 2012

Hearing Loss

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Section: Saethre-chotzen Syndromementioning

confidence: 99%

Genetic Hearing Loss Associated with Craniofacial Abnormalities

Lunardi¹,

Forlì²,

Michelucci³

et al. 2012

Hearing Loss

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“…The speech-hearing information on this condition is rare, especially since this is a condition difficult to diagnose (Gil-da-Silva-Lopes, 2004). Ensink et al (1996) conducted a study on the Saethre-Chotzen syndrome and verified the presence of conductive hearing loss that in this case was relayed to ankyolosis of the stapes and fixation of the ossicular chain as well as chronic infections of the middle ear.…”

Section: Saethre-chotzen Syndromementioning

confidence: 73%

Aspectos sobre desenvolvimento de linguagem oral em craniossinostoses sindrômicas

Arduino-Meirelles

Lacerda

Gil‐da‐Silva‐Lopes

2006

Pró-Fono R. Atual. Cient.

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Background: aspects of language development in craniosynostosis. Craniosynostosis (premature fusion of the cranial sutures) has an incidence of 0.4 to 1/1.000 newborns. Etiology for this congenital anomaly includes environmental and genetic factors. Regarding the form of presentation, it can occur in its isolated form or associated to other congenital anomalies. For this last group, acrocephalosyndactilies are observed. These are genetically determined conditions which present phenotypic similarity, including the following syndromes: Saethre-Chotzen, Apert, Crouzon e Pfeiffer. As all of these conditions affect the craniofacial development, it is possible to find anatomic and functional interferences which determine language delays and/or deficits. Aim: to revise the literature concerning aspects related to normal verbal language development and to describe the main characteristics associated to this condition in children who present Apert, Crouzon, Pfeiffer and SaethreChotzen syndromes. A systematic review on syndromic craniosynostosis and oral language was performed, consulting Medline, Lilacs and other important references on this theme. Conclusion: several manifestations related to hearing and language have been detected in individuals with syndromic craniosynostosis. The most important are alterations in the sound conduction system, leading to hearing losses, and consequently interfering in language acquisition and development. For this reason, speech-language diagnosis and early intervention are recommended in order to eliminate or minimize damages in language acquisition and development. Key Words: Craniosynostosis; Language Development; Genetics; Speech-Language and Hearing Sciences. ResumoTema: aspectos sobre o desenvolvimento de linguagem oral em craniossinostoses sindrômicas. As craniossinostoses (fusão precoce das suturas cranianas) apresentam incidência em torno de 0,4 a 1/1.000 nativivos. Estas podem ocorrer devido a fatores ambientais ou genéticos. Com relação à forma de apresentação, estas podem ocorrer de maneira isolada ou associada a outros defeitos congênitos. Neste último grupo, destacam-se as acrocefalossindactilias, condições geneticamente determinadas, que apresentam similaridade fenotípica, sendo estas as síndromes de Saethre-Chotzen, Apert, Crouzon e Pfeiffer. Diante destas condições complexas que envolvem o arcabouço craniofacial, é possível encontrar interferências anatômicas e funcionais que determinem atrasos e/ou desvios de linguagem. Objetivo: revisar a literatura acerca dos aspectos fonoaudiológicos relacionados ao desenvolvimento normal da linguagem oral e descrever as principais características associadas a ela apresentadas por crianças com síndromes de Apert, Crouzon, Pfeiffer e Saethre-Chotzen. Foi realizada revisão sistemática de estudos sobre as craniossinostoses sindrômicas e dados referentes a linguagem oral nestes casos. Para isso, utilizou-se pesquisa na base de dados Medline e Lilacs, assim como outras publicações importantes para a conclusão do artigo. Conclusã...

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“…The 14 percent rate of sensorineural involvement in our study group was higher than had been previously reported, and was significantly higher than the 0.88 percent prevalence reported in the general population. 32 Most series of Saethre-Chotzen patients have described mixed hearing loss, 30 conductive hearing loss, 27,28 or did not distinguish the type of loss. 19,25,29 There is only one prior reported case of pure sensorineural hearing loss in SaethreChotzen syndrome.…”

Section: Discussionmentioning

confidence: 99%