Matches in SemOpenAlex for { <https://semopenalex.org/work/W2102852655> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W2102852655 endingPage "98" @default.
- W2102852655 startingPage "93" @default.
- W2102852655 abstract "Antley-Bixler syndrome (ABS)—consisting of ABS type 1 (skeletal only) and ABS type 2, associated with cytochrome 450 mutations and P450 oxidoreductase deficiency (PORD-ABS)—is a heterogeneous syndrome with a constellation of skeletal deformation findings that classically include skull, facial, and appendicular defects. The hallmarks of ABS type 1 include craniosynostosis, midface hypoplasia, radiohumeral/radioulnar synostosis, arachnodactyly, bowing of the femur, congenital fractures, and choanal atresia. ABS has historically been identified at newborn or childhood examination using radiographic, computed tomography, or stillbirth autopsy. However, in recent years, antenatal ultrasonography has identified craniosynostotic conditions in utero. We present a case of PORD with the ABS phenotype diagnosed by sonography in utero at an early gestation (13–16 weeks), which included mutations in the POR gene. Sonographers, sonologists, and perinatologists aware of the diversity of this rare condition will be well prepared to raise the suspicion of Antley-Bixler PORD-type syndrome." @default.
- W2102852655 created "2016-06-24" @default.
- W2102852655 creator A5006189936 @default.
- W2102852655 creator A5086587364 @default.
- W2102852655 date "2014-09-17" @default.
- W2102852655 modified "2023-09-25" @default.
- W2102852655 title "Sonographic Diagnosis of Antley-Bixler PORD-Type Syndrome" @default.
- W2102852655 cites W1966331345 @default.
- W2102852655 cites W1967580857 @default.
- W2102852655 cites W1969798868 @default.
- W2102852655 cites W1987569936 @default.
- W2102852655 cites W1990649479 @default.
- W2102852655 cites W1994951476 @default.
- W2102852655 cites W1996640024 @default.
- W2102852655 cites W2006398911 @default.
- W2102852655 cites W2017884748 @default.
- W2102852655 cites W2020864583 @default.
- W2102852655 cites W2021673331 @default.
- W2102852655 cites W2032704991 @default.
- W2102852655 cites W2062798854 @default.
- W2102852655 cites W2068142738 @default.
- W2102852655 cites W2090757258 @default.
- W2102852655 cites W2093362650 @default.
- W2102852655 cites W2107285251 @default.
- W2102852655 cites W2111240504 @default.
- W2102852655 cites W2111707923 @default.
- W2102852655 cites W2127147050 @default.
- W2102852655 cites W2130527886 @default.
- W2102852655 cites W2145450766 @default.
- W2102852655 cites W2152915317 @default.
- W2102852655 cites W2341569576 @default.
- W2102852655 cites W2355363605 @default.
- W2102852655 cites W2415534552 @default.
- W2102852655 cites W2417164404 @default.
- W2102852655 cites W3022206038 @default.
- W2102852655 cites W4250522809 @default.
- W2102852655 doi "https://doi.org/10.1177/8756479314549583" @default.
- W2102852655 hasPublicationYear "2014" @default.
- W2102852655 type Work @default.
- W2102852655 sameAs 2102852655 @default.
- W2102852655 citedByCount "3" @default.
- W2102852655 countsByYear W21028526552019 @default.
- W2102852655 countsByYear W21028526552023 @default.
- W2102852655 crossrefType "journal-article" @default.
- W2102852655 hasAuthorship W2102852655A5006189936 @default.
- W2102852655 hasAuthorship W2102852655A5086587364 @default.
- W2102852655 hasConcept C105702510 @default.
- W2102852655 hasConcept C126838900 @default.
- W2102852655 hasConcept C141071460 @default.
- W2102852655 hasConcept C2778651544 @default.
- W2102852655 hasConcept C2779302956 @default.
- W2102852655 hasConcept C2780327212 @default.
- W2102852655 hasConcept C2780561598 @default.
- W2102852655 hasConcept C71924100 @default.
- W2102852655 hasConceptScore W2102852655C105702510 @default.
- W2102852655 hasConceptScore W2102852655C126838900 @default.
- W2102852655 hasConceptScore W2102852655C141071460 @default.
- W2102852655 hasConceptScore W2102852655C2778651544 @default.
- W2102852655 hasConceptScore W2102852655C2779302956 @default.
- W2102852655 hasConceptScore W2102852655C2780327212 @default.
- W2102852655 hasConceptScore W2102852655C2780561598 @default.
- W2102852655 hasConceptScore W2102852655C71924100 @default.
- W2102852655 hasIssue "2" @default.
- W2102852655 hasLocation W21028526551 @default.
- W2102852655 hasOpenAccess W2102852655 @default.
- W2102852655 hasPrimaryLocation W21028526551 @default.
- W2102852655 hasRelatedWork W1570547721 @default.
- W2102852655 hasRelatedWork W168857748 @default.
- W2102852655 hasRelatedWork W1964709258 @default.
- W2102852655 hasRelatedWork W2017884748 @default.
- W2102852655 hasRelatedWork W2102852655 @default.
- W2102852655 hasRelatedWork W2109185506 @default.
- W2102852655 hasRelatedWork W2419574429 @default.
- W2102852655 hasRelatedWork W2474699380 @default.
- W2102852655 hasRelatedWork W4220675710 @default.
- W2102852655 hasRelatedWork W2503265504 @default.
- W2102852655 hasVolume "31" @default.
- W2102852655 isParatext "false" @default.
- W2102852655 isRetracted "false" @default.
- W2102852655 magId "2102852655" @default.
- W2102852655 workType "article" @default.