Teunissen–Cremers syndrome
| Teunissen–Cremers syndrome | |
|---|---|
| Other names | Stapes ankylosis with broad thumbs and toes |
| Specialty | Orthopedic |
Teunissen–Cremers syndrome is a genetic disorder that presents with skeleton defects some of which can include the bones of the inner ear, fingers and toes.[1] This can result in conductive hearing loss and finger deformities.[1][2]
References
- ^ a b Hirshoren, N; Gross, M; Banin, E; Sosna, J; Bargal, R; Raas-Rothschild, A (Jul–Aug 2008). "P35S mutation in the NOG gene associated with Teunissen–Cremers syndrome and features of multiple NOG joint-fusion syndromes". European Journal of Medical Genetics. 51 (4): 351–7. doi:10.1016/j.ejmg.2008.02.008. PMID 18440889.
- ^ Toriello, Helga V.; Smith, Shelley D. (2013). Hereditary Hearing Loss and Its Syndromes. Oxford University Press. p. 405. ISBN 9780199313884.
Bert Teunissen, Cor Cremers. An autosomal dominant inherited syndrome with congenital stapes ankylosis. Laryngoscope 100: April 1990, 380-384
External links
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |