Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Common Name(s)

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by {6:McGlaughlin et al., 2010}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
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Reviews from the PubMed Database

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The terms "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.