Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Antley-Bixler syndrome 2

Antley-Bixler syndrome 2 is an autosomal recessive disorder caused by mutations of the FGFR2 gene. In contrast to type 1, type 2 is not associated with genital abnormalities as steroidogenesis is normal.

Systematic

Bone dysplasia
Achondroplasia
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
FGFR2
Apert syndrome
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

References:

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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Update: Sept. 26, 2018