Spectrum of Antley-Bixler syndrome

Journal of Craniofacial Surgery

Volumn 21, Issue 5, 2010, Pages 1560-1564

  McGlaughlin, Karen L ^a   Witherow, Helen ^d   Dunaway, David J ^d   David, David J ^a,b,c   Anderson, Peter J ^b,c  

^a UNIVERSITY OF ADELAIDE   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Antley Bixler syndrome; FGFR2; Phenotype; POR

Indexed keywords

ADENOIDECTOMY; ANTLEY BIXLER SYNDROME; ARTICLE; CHILD; FEMALE; GENETICS; GENOTYPE; HUMAN; INFANT; KARYOTYPING; MALE; NEWBORN; PRESCHOOL CHILD; TONSILLECTOMY;

ADENOIDECTOMY; ANTLEY-BIXLER SYNDROME PHENOTYPE; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; TONSILLECTOMY;

EID: 79952278257     PISSN: 10492275     EISSN: 15363732     Source Type: Journal    
DOI: 10.1097/SCS.0b013e3181ec6afe     Document Type: Article

References (27)

1. Antley R, Bixler D. Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser 1975;11:397-401
2. Lacheretz M, Walbaum R, Tourgis C. L'acrocephalosyndactyly. Apropos of a case with multiple synostoses. Pediatrie 1974;29:169-177
3. Chun K, Siegel-Bartelt J, Chitayat D, et al. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet 1998;77:219-224 (Pubitemid 28208442)
4. Robinson L, Powers N, Dunklee P, et al. The Antley-Bixler syndrome. J Pediatr 1982;101:201-205 (Pubitemid 12098767)
5. Bottero L, Cinalli G, Labrune P, et al. Antley-Bixler syndrome. Description of two new cases and a review of the literature. Childs Nerv Syst 1997;13:275-280
6. Lee H, Cho D, Tsai F, et al. Antley-Bixler syndrome, description of two new cases and review of the literature. Pediatr Neurosurg 2001;34:22-29
7. Crisponi G, Porcu C, Piu M. Antley-Bixler syndrome: case report and review of the literature. Clin Dysmorphol 1997;6:61-68 (Pubitemid 27041727)
8. Rumball K, Pang E, Letts R. Musculoskeletal manifestations of the Antley-Bixler syndrome. J Pediatr Orthop B 1999;8:139-143 (Pubitemid 29190176)
9. Hurley M, White M, Green A, et al. Antley-Bixler syndrome with radioulnar synostosis. Pediatr Radiol 2004;34:148-151 (Pubitemid 38202143)
10. DeLozier C, Antley R, Williams R, et al. The syndrome of multisynostotic osteodysgenesis with long-bone fractures. Am J Med Genet 1980;7:391-403 (Pubitemid 11203644)
11. Hosalkar H, Shah H, Gujar P, et al. The Antley-Bixler syndrome: two new cases. J Postgrad Med 2001;47:252-255 (Pubitemid 34196396)
12. Bradley J, Kawamoto H, Taub P, et al. Antley-Bixler syndrome: correction of facial deformities and long-term survival. Plast Reconstr Surg 2003;111:1454-1460 (Pubitemid 36302274)
13. Fluck C, Tajima T, Pandey A, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 2004;36:228-230 (Pubitemid 38282745)
14. Reardon W, Smith A, Honour J, et al. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet 2000;37:26-32 (Pubitemid 30245870)
15. Fukami M, Horikawa R, Nagai T, et al. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab 2005;90:414-426 (Pubitemid 40116690)
16. Huang N, Pandey A, Agrawal V, et al. Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet 2005;76:729-749 (Pubitemid 40563096)
17. Tsuchiya Y, Sueishi K, Yatabe K, et al. A case of Antley-Bixler syndrome with severe dental C1 III malocclusion. Bull Tokyo Dent Coll 2004;45:87-93
18. Chang Y, Tsai F, Shen W, et al. Antley-Bixler syndrome associated with Arnold-Chiari malformation. Acta Pediatr 2000;89:737-739 (Pubitemid 30624924)
19. Bianchi E, Cordini S, Fiori P, et al. Antley-Bixler syndrome: description of two patients. Skeletal Radiol 1991;20:339-343
20. Anderson P, Hall C, Evans R, et al. The elbow in syndromic craniosynostosis. J Craniofac Surg 1998;9:201-206 (Pubitemid 28233889)
21. Shands A, Bundens W. Congenital deformities of the spine: an analysis of the spines of 700 children. Bull Hosp Joint Dis 1956;17:110-133
22. Thompson D, Slaney S, Hall C, et al. Congenital cervical spinal fusion: a study in Apert syndrome. Pediatr Neurosurg 1996;25:20-27 (Pubitemid 27039018)
23. Kreiborg S, Barr M, Cohen M. Cervical spine in the Apert syndrome. Am J Med Genet 1992;43:704-708
24. Hemmer K, McAlister W, Marsh J. Cervical spine anomalies in the craniosynostosis syndromes. Cleft Palate J 1987;24:328-333 (Pubitemid 18017482)
25. Ferraro N. Dental, orthodontic, and oral/maxillofacial evaluation and treatment in Apert syndrome. Clin Plast Surg 1991;18:291-307
26. Anderson P. Extracranial Anomalies of the Common Craniosynostosis Syndromes. Edinburgh: University of Edinburgh, 1997
27. Anderson P, Hall C, Evans R, et al. Cervical spine in Pfeiffer's syndrome. J Craniofac Surg 1996;7:275-279 (Pubitemid 26270799)