| Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. | |
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MedLine Citation:
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PMID: 16906539 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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L Williamson; W Arlt; C Shackleton; R I Kelley; S R Braddock |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 140A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2006 Sep |
Date Detail:
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Created Date: 2006-08-24 Completed Date: 2006-10-19 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1797-803 Citation Subset: IM |
Affiliation:
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University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
genetics* Adrenal Hyperplasia, Congenital / diagnosis*, genetics* Adult Craniosynostoses / genetics, pathology Cytochrome P-450 Enzyme System / deficiency*, genetics, metabolism Female Genitalia / abnormalities* Humans Infant Infant, Newborn Male Mutation Phenotype Pregnancy Pregnancy Trimester, Third Steroids / analysis Syndrome Synostosis / genetics |
| Chemical | |
Reg. No./Substance:
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0/Steroids; 9035-51-2/Cytochrome P-450 Enzyme System |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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