Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Antley-Bixler syndrome 1

Antley-Bixler syndrome 1 is an autosomal recessive disorder caused by mutations of the POR gene. Aside of the typical dysmorphic skeletal features, type 1 is characterized by genital abnormalities that are more common with the female karyotype due to impaired steroidogenesis.

Systematic

Bone dysplasia
Achondroplasia
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
POR
Antley-Bixler syndrome 2
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.

Shen AL et. al. (2002) Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase.

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3.

Kelley RI et. al. (2002) Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

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4.

Otto DM et. al. (2003) Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis.

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5.

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

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6.

Flück CE et. al. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

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7.

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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8.

Aleck KA et. al. (1997) Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient.

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9.

Shackleton C et. al. (2004) Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.

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10.

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

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Update: Sept. 26, 2018