Concomitant Occurrence of Cochleosaccular Dysplasia and Down's Syndrome

Ap, Walby; Hf, Schuknecht

doi:10.1001/archotol.1984.00800330059013

Cited by 13 publications

(4 citation statements)

References 7 publications

(3 reference statements)

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“…Wide communication of the saccular and utricular spaces was seen in one, abnormal LSCC in two, truncated posterior SCC in one, and abnormal vestibular aqueduct in two. Walby 18 describes a single case with short cochlea, small lateral semicircular canal, and Scheibe cochleosaccular dysplasia. Schmidt 19 evaluated cochlear neuronal populations in a series of ears with developmental defects, including one patient with DS, and profound hearing loss and found a significantly decreased neuronal population.…”

Section: Discussionmentioning

confidence: 99%

Inner Ear Dysplasia is Common in Children With Down Syndrome (trisomy 21)

et al. 2006

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Inner ear dysplasia is much more common in DS than previously reported. Inner ear structures are universally hypoplastic. Vestibular malformations are particularly common and a small bony island of the lateral semicircular canal (<3 mm in diameter) appears highly typical. Additional findings in some patients were persistent lateral semicircular anlage with fusion of the lateral semicircular canal and vestibule into a single cavity, vestibular aqueduct and endolymphatic sac fossa enlargement, cochlear nerve canal hypoplasia, and stenosis or duplication of the internal auditory canal. Stenosis of the external meatus, poor mastoid pneumatization, middle ear and mastoid opacification, and cholesteatoma were common, as expected.

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Section: Discussionmentioning

confidence: 99%

Inner Ear Dysplasia is Common in Children With Down Syndrome (trisomy 21)

et al. 2006

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“…9,13,14 Very occasionally a cochleosaccular dysplasia is found. 15 The only abnormalities of the vestibular system observed are malformations of the semicircular canals. 9,16 There also appears to be a reduction in the number of spiral ganglion neurons found in the temporal bones of Down's patients as compared with normal temporal bones.…”

Section: Otologic Abnormalitiesmentioning

confidence: 99%

ENT and Speech Disorders in Children with Down’s Syndrome: an Overview of Pathophysiology, Clinical Features, Treatments, and Current Management

Venail

Gardiner

Mondain

2004

Clin Pediatr (Phila)

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Down's syndrome is the most commonly occurring genetic abnormality, involving about 1 in 600 births. The increasing life expectancy of individuals with Down's syndrome has revealed the presence of several unexpected pathological processes. Among these, ENT disorders hold an important place because of their high incidence and severity. Accurate knowledge of the pathophysiology underlying ENT disorders (facial dysmorphism, ear abnormalities, upper airway abnormalities, and immunodeficiency) allow an understanding of the reasons for the development of the upper airway obstruction, obstructive sleep apnea syndrome, subglottic stenosis, deafness, speech delay, and ENT infections that occur frequently in these children. Early screening and specific treatment may allow some of the long-term sequelae to be avoided, or at least their prognosis to be improved. In order to help health care professionals in their daily practice, this review makes a series of recommendations to allow them to develop a master plan for the ENT management of children with Down's syndrome. In children with Down's syndrome, ENT disorders occur frequently and are often severe. They develop owing to craniofacial, functional, and immune system abnormalities. Early screening and treatment allow improvements in long-term outcomes.

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“…Down syndrome patients characteristically show a dysfunctional eustachian tube as well as immunity system disorders, which predispose them to a higher incidence of OME as compared to the normal population . In the otolaryngology field, many studies have reported the clinical, histopathological, audiological, and electrophysiological characteristics of patients with Down syndrome …”

Section: Introductionmentioning

confidence: 99%

“…4,10 In the otolaryngology field, many studies have reported the clinical, histopathological, audiological, and electrophysiological characteristics of patients with Down syndrome. [6][7][8][10][11][12][13][14][15][16][17] Hearing loss can exacerbate the mental and developmental delays in many patients with Down syndrome. Hearing loss has been reported in 38% to 78% of the Down syndrome population.…”

Section: Introductionmentioning

confidence: 99%