Multiple Synostosen
Das Schwerhörigkeit - Symphalangie-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im NOG-Gen hervorgerufen wird. Charakteristisch sind verschiedene Synostosen der proximalen Phalangen von Fingern und Zehen, Karpal und Tarsal-Gelenken, humeroradialer Gelenke und den gelenken der Halswirbelsäule sowie auch eine Schallleitungsschwerhörigkeit.
Gliederung
Referenzen:
| 1. |
Dawson K et. al. (2006) GDF5 is a second locus for multiple-synostosis syndrome. [^] |
| 2. |
Gaal SA et. al. (1987) Symphalangism and its introduction into Hawaii: a pedigree. [^] |
| 3. |
Higashi K et. al. (1983) Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family. [^] |
| 4. |
Gong Y et. al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. [^] |
| 5. |
Takahashi T et. al. (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. [^] |
| 6. |
van den Ende JJ et. al. (2005) The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. [^] |
| 7. |
None (1916) Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism). [^] |
| 8. |
Wan DC et. al. (2007) Noggin suppression enhances in vitro osteogenesis and accelerates in vivo bone formation. [^] |
| 9. |
Lehmann K et. al. (2007) A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. [^] |
| 10. |
Rudnik-Schöneborn S et. al. (2010) Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. [^] |
| 11. |
Maroteaux P et. al. (1972) [Multiple synostosis disease]. [^] |
| 12. |
Hurvitz SA et. al. (1985) The facio-audio-symphalangism syndrome: report of a case and review of the literature. [^] |
| 13. |
Fuhrmann W et. al. (1966) [Dominant hereditary bilateral dysplasia and synostosis of the elbow joint, with symmetrical brachymesophalangy and brachymetacarpy as well as synostoses in the finger, carpal and tarsal region]. [^] |
| 14. |
da-Silva EO et. al. (1984) Multiple synostosis syndrome: study of a large Brazilian kindred. [^] |
| 15. |
Krakow D et. al. (1998) Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. [^] |
| 16. |
Edwards MJ et. al. (2000) Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis. [^] |
