Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Proximaler Symphalangismus 1A

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.

Gliederung

Proximaler Symphalangismus
Proximaler Symphalangismus 1A
NOG
Proximaler Symphalangismus 1B

Referenzen:

1.

Polymeropoulos MH et. al. (1995) Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.

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2.

Gong Y et. al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

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3.

Takahashi T et. al. (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

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4.

None (1916) Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism).

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5.

Smith RJ et. al. (1979) Treatment of congenital deformities of the hand and forearm (first of two parts).

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6.

Kassner EG et. al. (1976) Symphalangism with metacarpophalangeal fusions and elbow abnormalities.

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7.

Cremers C et. al. (1985) Proximal symphalangia and stapes ankylosis.

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8.

Gorlin RJ et. al. (1970) Stapes fixation a proximal symphalangism.

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9.

Wildervanck LS et. al. (1967) Proximal symphalangism of fingers associated with fusion of os naviculare and talus and occurrence of two accessory bones in the feet (os paranaviculare and os tibiale externum) in an European--Indonesian--Chinese family.

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10.

Elkington SG et. al. (1967) The Talbot fingers: a study in symphalangism.

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11.

None (1960) Symphalangism, strabismus and hearing loss in mother and daughter.

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12.

None (2006) A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury.

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13.

None (1917) Phalangeal Anarthrosis (Synostosis, Ankylosis) transmitted through Fourteen Generations.

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Update: 31. März 2018