A Case of Antley-Bixler Syndrome with New Genetic Study Result

Abstract

Aims: Antley-Bixler syndrome (ABS) is a rare disease which is a complex of skeletal, visceral, extremity and genital anomalies and occasionally is associated with adrenal insufficiency due to P450-oxidoreductase deficiency. In this article we report a patient, a suspicious case of ABS with different phenotypic and genotypic characteristics. Presentation of Case: The patient is a male infant with facial dysmorphism, syndactyly, multiple joint contractures, and ambiguous genitalia. He had hyponatremia, hyperkalemia and elevated 17.OH.progestrone level of serum. In genetic analysis, no mutation was found in POR gene. Discussion: This patient has clinical and paraclinilical manifestations of ABS. Although different mutations have been reported as the cause of this syndrome, all reported patients who suffered from adrenal insufficiencies, had mutations in POR gene. Conclusion: According to our search in literature, this is the first case of ABS associated with adrenal insufficiency who does not have any mutation in POR gene. More genetic studies are needed to determine new mutations in such patients.