Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

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

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2.

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

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3.

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

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4.

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

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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 EuropeanIndonesianChinese 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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14.

OMIM.ORG article

Omim 185800 [^]
Update: 29. April 2019