Diagnosis and Testing
How do I get tested for Antley-Bixler syndrome?
The presence of craniosynostosis (premature closure of skull bones) and radiohumeral synostosis (fusion of adjacent arm bones) at birth are the minimum criteria for a diagnosis of ABS. However, it is also important to distinguish between the two types of ABS due to the difference in inheritance patterns and the vulnerability to different risk factors. The two types can be distinguished through clinical findings of ambiguous genitalia, or a biochemical blood test checking for steroid abnormalities. Molecular genetic testing is desirable to confirm a diagnosis of ABS and which type is, especially when physical and laboratory findings are inconclusive.
Discuss with your doctor about any concerns you have or for a referral to a medical geneticist and other medical specialist.
To discuss arranging genetic testing for Antley-Bixler syndrome, contact a local genetic counselor. Genetic counselors can be found on the National Society of Genetic Counselors website.
McKusick, V. (n.d.). Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. Retrieved December 24, 2018, from https://omim.org/entry/201750
Idkowiak, J. (2017, August 03). Cytochrome P450 Oxidoreductase Deficiency. Retrieved December 25, 2018, from https://www.ncbi.nlm.nih.gov/books/NBK1419