Teunissen–Cremers syndrome explained
Teunissen–Cremers syndrome |
Synonyms: | Stapes ankylosis with broad thumbs and toes |
Field: | 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
Bert Teunissen, Cor Cremers.An autosomal dominant inherited syndrome with congenital stapes ankylosis.Laryngoscope 100: April 1990, 380-384
Notes and References
- Hirshoren. N. Gross, M . Banin, E . Sosna, J . Bargal, R . Raas-Rothschild, A . P35S mutation in the NOG gene associated with Teunissen–Cremers syndrome and features of multiple NOG joint-fusion syndromes.. European Journal of Medical Genetics. Jul–Aug 2008. 51. 4. 351–7. 18440889. 10.1016/j.ejmg.2008.02.008.
- Book: Toriello. Helga V.. Smith. Shelley D.. Hereditary Hearing Loss and Its Syndromes. 2013. Oxford University Press. 9780199313884. 405. en.