Otologic Manifestations of Acrocephalosyndactyly

Bergstrom, LaVonne; Neblett, Lewis M.; Hemenway, William G.

doi:10.1001/archotol.1972.00770090191005

Cited by 45 publications

(18 citation statements)

References 6 publications

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“…It was the most common otologic problem, and could be influenced by a number of factors. Since abnormal cartilage has been reported in the hands, feet, trachea, cervical spine, and cranial base of Apert syndrome patients [5], with asymmetry of the cranial base in one-third of affected infants [6], one theory relates hearing loss to compression of the acoustic nerve from skull base anomalies and a narrowed IAC [7].…”

Section: Discussionmentioning

confidence: 99%

“…Another important consideration is the attendant risk of stapes gusher. Congenital stapes fixation is frequent in Apert syndrome and perilymph leakage is common with congenital fixation of the footplate [7].…”

Section: Discussionmentioning

confidence: 99%

“…Gusher seems prevalent in certain groups, such as males with X-linked recessive mixed hearing loss and congenitally fixed stapes [14][15][16], or young females with long standing progressive severe mixed hearing loss [17]. Bergstrom et al reported cases of Apert syndrome with maximal conductive hearing loss, all congenital in origin [7]. One involved a congenitally fixed footplate in a young woman with progressive unilateral hearing loss and unremarkable tomography.…”

Section: Discussionmentioning

confidence: 99%

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Apert syndrome and hearing loss with ear anomalies: a case report and literature review

Huang

Sweet

Tewfik

2004

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Apert syndrome and hearing loss with ear anomalies: a case report and literature review

Huang

Sweet

Tewfik

2004

International Journal of Pediatric Otorhinolaryngology

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“…Middle ear effusion was present in the majority of investigated ears (Bergstrom et a/., 1972;Gould and Caldarelli, 1982;Phillips and Miyamoto, 1986). A primary anatomical malformation was noted infrequently in Apert syndrome by polytomography.…”

Section: Table I Featu Res Presen T In T H E Sa Et H R E -C H O T Ze N Smentioning

confidence: 92%

Hearing loss in the Saethre-Chotzen syndrome

et al. 1996

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A three-generation family with Saethre-Chotzen syndrome and an isolated case are presented. The proband presented with conductive hearing loss. His mother and grandmother showed minor features of the syndrome including conductive hearing loss.Symptoms of the craniosynostosis syndromes can include stapes ankylosis, a fixed ossicular chain in a too small epitympanum, and small or even absent mastoids. The proband was treated with a boneanchored hearing aid (B A H A ) instead of reconstructive middle ear surgery. Current literature on the results of ear surgery is reviewed. In general, reconstructive middle ear surgery should only be considered if congenital anomalies of the middle ear are the only presenting symptom. In cases with additional anomalies such as atresia of the ear canal or damage due to chronic ear infections, the outcome of reconstructive surgery to correct the anomalous ossicular chain is unsatisfactory. In such cases the B A H A is probably the best solution.

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“…This syndrome is characterized by craniosynostosis of coronal sutures, midface hypoplasia, obstructive sleep apnea, complex syndactyly of hands and feet, and mental retardation. Studies 7,9,10,18,19 of patients with Apert syndrome describe a high incidence of conductive hearing loss, predominantly caused by recurrent otitis media with effu- sion and congenital stapes fixation. Superior semicircular channel dehiscence has been described in Apert syndrome as a cause of conductive hearing loss with larger air-bone gaps at lower frequencies.…”

Section: Commentmentioning

confidence: 99%

Audiological Profile of Children and Young Adults With Syndromic and Complex Craniosynostosis

Jong

Toll²,

Gier³

et al. 2011

Arch Otolaryngol Head Neck Surg

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Most patients with syndromic and complex craniosynostosis have recurrent otitis media with effusion, causing episodes of conductive hearing loss throughout their lives. Sensorineural hearing loss can occur in all 4 syndromes studied but is the primary cause of hearing loss in children and young adults with Muenke syndrome. For patients with these syndromes, we recommend routine visits to the general practitioner or otolaryngologist, depending on national standards of care, to screen for otitis media with effusion throughout life. We also advise early screening for sensorineural hearing loss among children and young adults with these syndromes.

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Otologic Manifestations of Acrocephalosyndactyly

Cited by 45 publications

References 6 publications

Apert syndrome and hearing loss with ear anomalies: a case report and literature review

Apert syndrome and hearing loss with ear anomalies: a case report and literature review

Hearing loss in the Saethre-Chotzen syndrome

Audiological Profile of Children and Young Adults With Syndromic and Complex Craniosynostosis

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