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Antley-Bixler Syndrome Phenotype

An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).
Also Known As:
Multisynostotic Osteodysgenesis; POR Deficiency; Antley Bixler Syndrome Phenotype; Antley Bixler Syndrome with Disordered Steroidogenesis; Antley Bixler Syndrome, Autosomal Dominant; Osteodysgenesis, Multisynostotic; Phenotype, Antley-Bixler Syndrome; Syndrome Phenotype, Antley-Bixler; Antley-Bixler Syndrome with Disordered Steroidogenesis; Antley-Bixler Syndrome, Autosomal Dominant
Networked: 16 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Virilism (Virilization)
2. Disorders of Sex Development (Intersexuality)
3. Craniosynostoses (Craniosynostosis)
4. Contracture
5. Pathologic Constriction (Stenosis)

Experts

1. Miller, Walter L: 5 articles (09/2008 - 11/2004)
2. Fukami, Maki: 3 articles (12/2014 - 02/2006)
3. Ogata, Tsutomu: 3 articles (12/2014 - 02/2006)
4. Pandey, Amit V: 3 articles (01/2011 - 11/2004)
5. Flück, Christa E: 3 articles (01/2011 - 11/2004)
6. Huang, Ningwu: 3 articles (01/2008 - 11/2004)
7. Tajima, Toshihiro: 2 articles (05/2009 - 11/2004)
8. Hasegawa, Tomonobu: 2 articles (05/2009 - 02/2006)
9. Nishimura, Gen: 2 articles (05/2009 - 02/2006)
10. Fujieda, Kenji: 2 articles (05/2009 - 11/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Antley-Bixler Syndrome Phenotype:
1. Cytochrome P-450 Enzyme System (Cytochrome P450)IBA
2. Antley-Bixler syndromeIBA
3. Estriol (Epiestriol)IBA
4. EnzymesIBA
5. AndrogensIBA
6. Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA
7. Testosterone (Sustanon)FDA Link
8. Steroid 21-Hydroxylase (21 Hydroxylase)IBA
9. Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA
10. Dihydrotestosterone (Androstanolone)IBA