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- Title
Antley-Bixler syndrome associated with Arnold-Chiari malformation.
- Authors
Chang, Y.-T.; Tsai, F.-J.; Shen, W.-C.; Lin, H.-C.; Peng, C.-T.; Tsai, C.-H.
- Abstract
Antley-Bixler syndrome is a rare disorder characterized by craniosynostosis, midface hypoplasia (often with choanal stenosis), radiohumeral synostosis and joint contractures. We present a case of Antley-Bixler syndrome with characteristic craniosynostosis and radioulnahumeral synostosis, combined with thoracic spine synostosis. Antley-Bixler associated with Arnold-Chiari malformation has not been previous reported. The main features of the case are analysed with a discussion of pathogenesis, management and genetic counselling.
- Subjects
ARNOLD-Chiari deformity; MAGNETIC resonance imaging; INFANT diseases; FACIAL abnormalities; CRANIOSYNOSTOSES; DISEASE complications; FACE; MUSCULOSKELETAL system diseases; SYNDROMES; TREATMENT effectiveness; MULTIPLE human abnormalities
- Publication
Acta Paediatrica, 2000, Vol 89, Issue 6, p737
- ISSN
0803-5253
- Publication type
journal article
- DOI
10.1111/j.1651-2227.2000.tb00376.x