Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Antley-Bixler-Syndrom 2

Das Antley-Bixler-Syndrom 2 ist eine autosomal rezessive Erkrankung, die durch Mutationen des FGFR2-Gens hervorgerufen wird. Im Unterschied zum Typ 1, finden sich keine genitale Fehlbildungen, da die Steroidsynthese nicht gestört ist.

Gliederung

Knochendysplasie
Achondroplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
FGFR2
Apert-Syndrom
Blomstrand-Chondrodysplasie
Brachydaktylie Typ E2
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

Reardon W et. al. (2000) Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

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2.

Hurley ME et. al. (2004) Antley-Bixler syndrome with radioulnar synostosis.

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3.

Huang N et. al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

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4.

Chun K et. al. (1998) FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

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5.

None (1999) Patient described by Chun et al. may not present Antley-Bixler syndrome.

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6.

Gripp KW et. al. (1999) Not Antley-Bixler syndrome.

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7.

McGlaughlin KL et. al. (2010) Spectrum of Antley-Bixler syndrome.

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8.

None (1989) Antley-Bixler syndrome from a prognostic perspective.

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9.

Escobar LF et. al. (1988) Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature.

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10.

Schinzel A et. al. (1983) Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus.

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11.

Antley RM et. al. (1983) Developments in the trapezoidcephaly-multiple synostosis syndrome.

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12.

Robinson LK et. al. (1982) The Antley-Bixler syndrome.

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13.

DeLozier CD et. al. (1980) The syndrome of multisynostotic osteodysgenesis with long-bone fractures.

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14.

LeHeup BP et. al. (1995) The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.

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15.

Feigin E et. al. (1995) Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21.

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16.

Hassell S et. al. (1994) Antley-Bixler syndrome: report of a patient and review of literature.

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17.

Crisponi G et. al. (1997) Antley-Bixler syndrome: case report and review of the literature.

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18.

Chabchoub A et. al. (1998) The Antley-Bixler syndrome. A new case without radiohumeral synostosis.

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