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Research Article Open access CC BY 4.0

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

Zohreh Karamizadeh, Hamdollah Karamifar, Gholamhossein Amirhakimi, Hossein Moravej, Ladan Nasermoaddeli

Journal of Advances in Medicine and Medical Research · pp. 1–4 · Published 31 Mar 2016

10.9734/BJMMR/2016/24651

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.

Antley-Bixler P450 oxidoreductase deficiency congenital adrenal hyperplasia ambiguous genitalia.

References (8)

  1. 1 Smith's Recognizable Patterns of Human Malformation [DOI]
  2. 2 A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene [DOI]
  3. 3 46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene [DOI]
  4. 4 Antley-Bixler Syndrome, Description of Two New Cases and Review of the Literature [DOI]
  5. 5 Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
  6. 6 A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency.
  7. 7 A Case of Antley-Bixler Syndrome [DOI]
  8. 8 Gross Motor Function of a Child With Antley-Bixler Syndrome [DOI]

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