Linking Antley–Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency

L Williamson, Wiebke Arlt, Cedric Shackleton, RI Kelley, SR Braddock

    Research output: Contribution to journalArticle

    16 Citations (Scopus)

    Abstract

    The Antley-Bixler syndrome (ABS) is a multiple congenital malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia or stenosis, joint contractures, urogenital abnormalities and, often, early death. Autosomal recessive and dominant inheritance have been postulated, as has fluconazole teratogenesis. Mutations in POR (P450 (cytochrome) oxidoreductase, an essential electron donor to enzymes participating in cholesterol biosynthesis), have been identified in some patients with the ABS phenotype. Recent evidence suggests that these mutations cause attenuated steroid hydroxylation, which in turn, causes congenital adrenal hyperplasia (CAH) with ambiguous genitalia in both sexes and glucocorticoid deficiency. Here, we report on a new patient with findings of both ABS and CAH that further illustrates how low maternal estriol at prenatal screening can serve as a marker steroid facilitating early diagnosis.
    Original languageEnglish
    Pages (from-to)1797-1803
    Number of pages7
    JournalAmerican Journal of Medical Genetics Part A
    Volume140A
    Issue number17
    DOIs
    Publication statusPublished - 1 Sep 2006

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