Ear Deformities Associated with the Klippel-Feil Syndrome

Windle-Taylor, P. C.; Emery, Pauline J.; Phelps, P. D.

doi:10.1177/000348948109000303

Cited by 18 publications

(7 citation statements)

References 16 publications

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“…The inner ear changes include absent vestibules and semicircular canals 25. Cochlear abnormalities include total absence of the cochlea, decreased number of coils, and a Mondini anomaly 26. Various abnormalities of the ossicular chain are also described.…”

Section: Discussionmentioning

confidence: 99%

“…It is important for others involved in their care to be aware of the strong association with hearing problems and ensure formal audiological testing is undertaken. Although some have investigated cases further with radiological imaging,26 most cases have not been extensively investigated. Some cases with profound hearing impairment need further assessment to ascertain the feasibility of cochlear implantation or whether other modes of auditory rehabilitation such as surgical intervention27 28 can be undertaken.…”

Section: Discussionmentioning

confidence: 99%

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Audiological abnormalities in the Klippel-Feil syndrome

McGaughran

Kuna

Das

1998

Archives of Disease in Childhood

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Klippel-Feil syndrome (KFS) is defined as a short neck with decreased movement and low posterior hairline. Radiologically, there is a failure of cervical segmentation. Deafness is a well known associated feature and may be of sensorineural, conductive, or mixed type. The audiological assessment of 44 patients with KFS is reported. Thirty five were found to have abnormalities on audiological testing. The presence of other features in these patients, reviews of data from other reports, and the need for further study are discussed.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Audiological abnormalities in the Klippel-Feil syndrome

McGaughran

Kuna

Das

1998

Archives of Disease in Childhood

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“…21 Klippel-Feil deformity is commonly associated with severe cochlear dysplasia, with abnormalities including Mondini deformity and complete aplasia of the cochlea. In a series of 10 cases described by Windle-Taylor et al, 22 there were 12 'dead ears', including ve children with profound sensorineural deafness that affected both ears to a degree that would have made them cochlear implant candidates. Of these ve children's 10 'dead ears', one had complete aplasia of the cochlea and an absent IAM, making it unsuitable for implantation.…”

Section: Methods Of Imaging For Inner Ear Malformationsmentioning

confidence: 99%

Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity

Graham

Phelps²,

Michaels³

2000

J. Laryngol. Otol.

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139

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The objective of this review is to analyze aspects of congenital malformation of the ear in relation to cochlear implantation in children. Having briefly described the in utero development of the ear and the classification of types of external, middle and inner ear malformation, five practical aspects of these malformations are discussed. It seems likely that the combination of bilateral profound sensorineural deafness with bilateral microtia severe enough to make a surgical approach to the cochlea difficult will be extremely uncommon. No such cases have been reported, although Klippel-Feil deformity seems the syndrome most likely to produce this set of circumstances.Abnormalities in the intratympanic course of the facial nerve have been associated with cochlear malformation, emphasizing the benefit of intra-operative facial nerve monitoring, and a technique suggested for safely avoiding an abnormally placed nerve. Fistulae of cerebrospinal fluid (CSF) and perilymph can complicate surgery and are relatively common in common cavity and Mondini malformations. Strategies for facilitating surgery in the presence of ‘gushers’, for measuring the pressure of a gusher and for placement of the cochlear implant electrode array are reviewed, with reports of fluctuating levels of electric current when implants lie in dysplastic cochleas.The relationship of implant performance to VIIIth nerve tissue in malformed cochleas is discussed, with a description of the histological findings in a common cavity cochlea. Techniques for identifying the absence of the cochlear nerve are reviewed. Stimulation of the facial nerve by cochlear implants has been described in cases of congenital malformation of the labyrinth but is relatively uncommon. Case reports of the benefit received by implanted children with congenital cochlear malformation have appeared since 1988. Most cases reported have not yet been followed for long enough to establish a clear picture of the outcome following cochlear implantationin such children; no centre has yet built up a large series of cases, but there have been two multicentre postal surveys. It seems likely that in cochlear malformation the range of potential outcomes in terms of hearing threshold and the development of speech perception and production will be similar to the range found in implanted children without cochlear dysplasia. However there is, as yet, no clear picture of the mean level of performance within this range.

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“…Unilateral or bilateral neurosensory hearing loss is fairly common in patients with the Klippel-Feil anomaly [Wilkinson, 1978;Hensinger et al, 1974;Windle-Taylor et al, 1981;Sakai et al, 19831. An inner ear defect (for example the Mondini defect, a developmental defect of the cochlear and vestibular structures [Ormerod, 19601) is frequently present in these individuals [Windle-Taylor et al, 19811.…”

Section: Klippel-feil Defectmentioning

confidence: 99%

Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomalies

Bavinck

Weaver²

1986

Am. J. Med. Genet.

564

252

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A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse limb defects, and the Sprengel anomaly. We propose that these conditions are the result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and/or their branches, and hypothesize that the occlusions occur at specific locations in these vessels during or around the sixth week of embryologic development and produce predictable patterns of defects. The term subclavian artery supply disruption sequence (SASDS) is suggested for the group of birth defects represented by the above conditions. Possible causes for interruption of embryonic blood supply are discussed.

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Ear Deformities Associated with the Klippel-Feil Syndrome

Cited by 18 publications

References 16 publications

Audiological abnormalities in the Klippel-Feil syndrome

Audiological abnormalities in the Klippel-Feil syndrome

Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity

Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomalies

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