Antley-Bixler syndrome with radioulnar synostosis
| Autor: | Maja E. Hurley, Jerry Kelleher, Martin J. White, Andrew Green |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Antley–Bixler syndrome Radiohumeral synostosis Ulna Bone and Bones Craniosynostosis Craniosynostoses Multiple joint contractures medicine Humans Radiology Nuclear Medicine and imaging Abnormalities Multiple business.industry Infant Newborn Syndrome medicine.disease Surgery Radiography Radius Synostosis Pediatrics Perinatology and Child Health Radioulnar synostosis Presentation (obstetrics) business |
| Zdroj: | Pediatric radiology. 34(2) |
| ISSN: | 0301-0449 |
| Popis: | This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. In addition, the child had a FGFR1 1300T mutation, which has not previously been associated with AB syndrome. Thus, our patient presents unique features and represents another argument in favour of an AB-like spectrum rather than a single syndrome. |
| Databáze: | OpenAIRE |
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