Die Cushing-Symphalangie 1A ist eine autosomal dominante Erkrankung, die durch Mutationen im NOG-Gen hervorgerufen wird. Charakteristisch sind Fusionen der proximalen Fingergelenke, Karpal- und Tarsalfusionen sowie gelegentlich einer Schallleitungsschwerhörigkeit.
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Gong Y et al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. |
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Takahashi T et al. (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. |
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None (1916) Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism). |
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Polymeropoulos MH et al. (1995) Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. |
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Smith RJ et al. (1979) Treatment of congenital deformities of the hand and forearm (first of two parts). |
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Kassner EG et al. (1976) Symphalangism with metacarpophalangeal fusions and elbow abnormalities. |
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Cremers C et al. (1985) Proximal symphalangia and stapes ankylosis. |
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Gorlin RJ et al. (1970) Stapes fixation a proximal symphalangism. |
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Elkington SG et al. (1967) The Talbot fingers: a study in symphalangism. |
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None (1960) Symphalangism, strabismus and hearing loss in mother and daughter. |
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None (2006) A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury. |
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None (1917) Phalangeal Anarthrosis (Synostosis, Ankylosis) transmitted through Fourteen Generations. |
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OMIM.ORG article Omim 185800 |