Hearing Loss in Patients with Spondyloepiphyseal Dysplasia Congenita and Tarda
Roya Azadarmaki, Bria R. Collins, Allyson D. Bull, Sanjay Prasad
Journal of Advances in Medicine and Medical Research · pp. 1113–1120 · Published 28 Jan 2015
10.9734/BJMMR/2015/15496Abstract
Aim: To describe hearing loss in patients with spondyloepiphyseal dysplasia congenita and tarda. Methodology: A literature review of the National Library of Medicine's online database on hearing loss in patients with spondyloepiphyseal dysplasia congenita and tarda was performed. Results: Four articles were identified that reported hearing loss in subjects with spondyloepiphyseal dysplasia congenita and tarda. Including this study, a total of fourteen patients with hearing loss are reported. Eight patients with sensorineural loss and two patients with mixed hearing loss were identified. The type of hearing loss is unknown in 4 cases. Conclusion: Serial audiograms are recommended early in life in individuals with spondyloepiphyseal dysplasia congenita and when clinically indicated in patients with spondyloepiphyseal dysplasia tarda.
References (19)
- 1 Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance [DOI]
- 2 The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda [DOI]
- 3 Type II Collagen Autoimmunity in Otosclerosis and Meniere's Disease [DOI]
- 4 Spondyloepiphyseal Dysplasia Congenita [DOI]
- 5 A Missense Mutation in the Mouse Col2a1 Gene Causes Spondyloepiphyseal Dysplasia Congenita, Hearing Loss, and Retinoschisis [DOI]
- 6 X-Linked Recessive Spondyloepiphyseal Dysplasia Tarda Clinical and Radiographic Evolution in a 6-Generation Kindred and Review of the Literature [DOI]
- 7 Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three‐generation family [DOI]
- 8 A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita [DOI]
- 9 Antibodies against a 30 Kilodalton Cochlear Protein and Type II and IX Collagens in the Serum of Patients with Inner Ear Diseases [DOI]
- 10 Mutational Analysis in X-Linked Spondyloepiphyseal Dysplasia Tarda [DOI]
- 11 Osteochondrodysplasias, Dysostoses, Chromosomal Aberrations, Mucopolysaccharidoses, and Mucolipidoses [DOI]
- 12 The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site [DOI]
- 13 Spondyloepiphyseal Dysplasia Congenita Associated with Conductive Hearing Loss [DOI]
- 14 Dysplasia spondyloepiphysaria congenital
- 15 Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation. [DOI]
- 16 True Generalized Microdontia and Hypodontia with Spondyloepiphyseal Dysplasia [DOI]
- 17 Type II collagen distribution in the monkey ear.
- 18 Type II Collagen-Induced Autoimmune Otospongiosis [DOI]
- 19 Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps. [DOI]
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