References
- 1. Apert ME. De l’acrocephalosyndactylie. Bull. Mem. Soc Med Hop Paris 1906; 23: 1310-1330.
- 2. Kreiborg A, Barr M Jr, Cohen MM Jr. Cervical spine in the Apert syndrome. Am J Med Genet 1992; 43: 704-708.10.1002/ajmg.1320430411
- 3. Wilkie AOM, Slaney S F, Oldridge M, Poole M D, Ashworth G J, Hockley A D, Hayward RD, David DJ, Pulleyn L J, Rutland P, Malcolm S, Winter R M, Reardon W. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 1995; 9: 165-172.10.1038/ng0295-165
- 4. Patton MA, Goodship J, Hayward R, Lansdown R. Intellectual development in Apert’s syndrome: a long term follow up of 29 patients. J Med Genet. 1988;25: 164-167.10.1136/jmg.25.3.164
- 5. Cohen M M Jr, Kreiborg S. The central nervous system in the Apert syndrome. Am J Med Genet 1990;35: 36-45.10.1002/ajmg.1320350108
- 6. Reiner D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D. Prognosis for mental function in Apert’s syndrome. J Neurosurg 1996;85: 66-72.10.3171/jns.1996.85.1.0066
- 7. Pelz L, Unger K, Radke M. Esophageal stenosis in acrocephalosyndactyly type I. (Letter) Am J Med Genet 1994; 53: 91 only.
- 8. Khong J J, Anderson P, Gray TL, Hammerton M, Selva D, David D. Ophthalmic findings in Apert syndrome prior to craniofacial surgery. Am J Ophthal. 2006; 142: 328-330.
- 9. Roberts KB, Hall JG. Apert’s acrocephalosyndactyly in mother and daughter: cleft palate in the mother. Birth Defects Orig Art Ser 1971; VII(7): 262-264.
- 10. Allanson J E. Germinal mosaicism in Apert syndrome. Clin Genet 1986;29: 429-433.
- 11. Blank C E. Apert’s syndrome (a type of acrocephalosyndactyly): observations on a British series of thirty-nine cases. Ann Hum Genet 1960;24: 151-164.
- 12. Oldridge M, Lunt PW, Zackai EH, McDonald-Mc-Ginn DM, Muenke M, Moloney DM, Twigg SRF, Heath J K, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie, AO M. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Molec Genet 1997;6: 137-143.
- 13. Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, Delezoide AL, Bonaventure J, Le Merrer M, Renier D. Clinical variability in patients with Apert’s syndrome. J Neurosurg 1999;90: 443-447.10.3171/jns.1999.90.3.0443
- 14. von Gernet S, Golla A, Ehrenfels Y, Schuffenhauer S, Fairley J D. Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. Clin Genet 2000; 57: 137-139.
- 15. Tolarova MM, Harris JA, Ordway DE, Vargervik K. Birth prevalence, mutation rate, sex ratio, parents’ age, and ethnicity in Apert syndrome. Am J Med Genet 1997;72: 394-398.