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References for Syndromic Craniosynostosis in Children

This page was last updated on November 24th, 2022

  1. Sömmerring ST: Vom Baue des menschlichen Körpers. Leipzig, Germany: Voss, 1800
  2. Otto AW: Lehrbuch der pathologischen Anatomie. Berlin: Rücker, 1830
  3. Virchow R: Über den Cretinismus, namentlich in Franken, und über pathologische Schädelformen. Verh Phys Med Gesellsch Würzburg 2:230-271, 1851
  4. Apert E: De l’acrocéphalosyndactylie. Bull Soç Méd Hôp Paris 36:3110, 1906
  5. Crouzon O: Dysostose craniofaciale hereditaire. Bull Soç Méd Hôp Paris 33:545-555, 1912
  6. Lannelongue M: De la vrâniectomie dans la microcéphalie. CR Acad Sci Paris 110:1382-1385, 1890.
  7. Lane L: Pioneer craniectomy for relief of mental imbecility due to premature sutural closure and microcephalus. JAMA 18:49-50, 1892
  8. Mehner A: Beiträge zu den Augenveränderungen bei der Schädeldeformität des sogenannten Turmschädels mit besonderer Berücksichtigung des Röntgenbildes. Klin Monatsbl Augenheilkd 61:204, 1921
  9. Faber HK, Towne EB: Early craniectomy as a preventive measure in oxycephaly and allied conditions with special reference to the prevention of blindness. Am J Med Sci 173:701-711, 1927
  10. Jabs EW, Müller U, Li X, et al: A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75:443-450, 1993
  11. Wilkie AO, Tang Z, Elanko N, et al: Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 24:387-390, 2000
  12. Cohen MM Jr, MacLean RE: TWIST and MSX2 Mutations in Craniosynostosis. Diagnosis, Evaluation and Management, ed 2. Oxford: Oxford University Press, 2000
  13. Dunn FH: Apert’s acrocephalosyndactylism. Radiology 78:738-743, 1962
  14. Roberts KB, Hall JG: Apert’s acrocephalosyndactylism in mother and daughter: Cleft palate in the mother. Birth Defects 7:262-263, 1981.
  15. Pillay VK: Acrocephalosyndactyly in Singapore. A study with 5 Chinese males. J Bone Joint Surg 46B:94-101, 1964
  16. Asnes RS, Morehead CD: Pfeiffer syndrome. Birth Defects 5:198-203, 1969
  17. Cohen MM Jr, Kreiborg S, Lammer EJ, et al: Birth prevalence study of the Apert syndrome. Am J Med Genet 42:655-659, 1992
  18. Martínez-Frías ML, Cereijo A, Bermejo E, et al: Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes. Am J Med Genet 38:662-675, 1991
  19. Albright AL, Byrd RP: Suture pathology in craniosynostosis. J Neurosurg 54:384-387, 1981
  20. Kreiborg S: Crouzon syndrome. A clinical and roentgencephalometric study. Scan J Plast Reconstr Surg Hand Surg Suppl 18: 1-198, 1981.
  21. Kreiborg S, Björk A: Description of a dry skull with Crouzon syndrome. Scan J Plast Reconstr Surg 15:245-253, 1982.
  22. Kreiborg S, Marsh JL, Cohen MM Jr, et al: Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes. J Cranio-Maxillo-Facial Surg 21:181-188, 1993
  23. Ousterhout DK, Melsen B: Cranial base deformity in Apert syndrome. Plast Reconstr Surg 69:254-263, 1982
  24. Cohen MM Jr: Craniosynostosis and syndromes with craniosynostosis: Incidence, genetics, penetrance, variability, and new syndrome updating. Birth Defects 15(5B):13-63, 1979
  25. Kaye CI, Matalon R, Pruzansky S: The natural history of Apert syndrome, with speculation on pathogenesis. Teratology 17:28A, 1978
  26. Wilkie AO, Slaney SF, Oldridge M, et al: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9:165-172, 1995
  27. Atkinson FR: Hereditary craniofacial dysostosis, or Crouzon’s disease. Med Press Circular 195:118-124,1937
  28. Muenke M, Gripp KW, McDonald-McGinn DM, et al: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564, 1997
  29. Bellus GA, Gaudenz K, Zackai EH, et al: Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-176, 1996
  30. Cohen MM Jr: Craniosynostosis: Diagnosis, Evaluation and Mangement. New York: Raven Press, 1986
  31. Saldino RM, Steinbach HL, Epstein CJ: Familial acrocephalosyndactyly (Pfeiffer syndrome). Am J Roentgenol 116:609-622, 1972
  32. Baraitser M, Bowen-Bravery M, Saldana-Barcia P: Pitfalls of genetic counseling in Pfeiffer syndrome. J Med Genet 17:250-256, 1980
  33. Muenke M, Schell U, Hehr A, et al: A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 8:269-274, 1994
  34. Schell U, Hehr A, Feldmann GJ, et al: Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 4:323-328, 1995
  35. Rutland P, Pulleyn LJ, Reardon W, et al: Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon phenotypes. Nat Genet 9:173-176, 1995
  36. Brueton LA, van Herwerden L, Chotai KA, et al: The mapping of a gene for craniosynostosis: Evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet 29:681-685, 1992
  37. Wilkie AO, Bochukova EG, Hansen RMS, et al: Research review: Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet 143A:1941-1949, 2007
  38. Cohen MM Jr: Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45:300-307,1993
  39. David L, Proffer P, Hurst W, et al: Spring-mediated cranial reshaping for craniosynostosis. J Craniofac Surg 15: 810-8 2004
  40. Marchac D, Renier D, Jones BM: Experience with the floating forehead. Br J Plast Surg 41:1-15, 1988
  41. Davis C, MacFarlane MR, Wickremesekera A: Occipital expansion without osteotomies in Apert Syndrome. Childs Nerv Syst 26:1543-1548, 2010
  42. Tessier P: The definitive plastic surgery treatment of the several facial deformities of craniofacial dysostosis. Crouzon and Apert disease. Plast Reconstr Surg 48:419-442, 1971
  43. Kreiborg S, Aduss H: Pre- and postsurgical facial growth in patients with Crouzon and Apert syndromes. Cleft Palate J Suppl pp78-90, 1986
  44. Wilmar K: Longitudinal postoperative studies following Le Fort I and III osteotomies in patients with craniofacial dysostosis, in Converse JM, McCarthy JG, Wood-Smith D (eds): Symposioum on Diagnosis and Treatment of Craniofacial Anomalies. St. Louis, MO: CV Mosby, 1979, pp 411-419
  45. Perlyn CA, Morriss-Kay G, Dravann T, et al: A model for the pharmacological treatment of Crouzon syndrome. Neurosurgery 59:210-215, 2006
  46. Melville H, Wang Y, Taub PJ, et al: Genetic basis of potential therapeutic strategies for craniosynostosis. Am J Med Genet 152A(12):3007-3015, 2010
  47. Goriely A, McVean GAT, Roejmyr M, et al: Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 301:643-646, 2003
  48. Goriely A, McVean GAT, van Pelt AMM, et al: Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci USA 102:6051-6056, 2005
  49. Pruzansky S: Craniofacial surgery: the experiment on nature’s experiment. Review of three patients operated by Paul Tessier. Eur J Orthod 4:151-171, 1982
  50. Munro IR: Craniofacial surgery. Cleft Palate J 19:72-73, 1982
  51. Witherow H, Dunaway D, Evans R et al: Functional outcomes in monobloc advancement by distraction using the rigid external distractor device. Plast Reconstr Surg 121: 1311-22, 2008
  52. Vogels A, Fryns J-P: Pfeiffer syndrome. Orphanet J Rare Dis 1:19,  2006
  53. Woods RH, Wilkie DM, Jayamohan J, et al: Re-operation for intracranial hypertension for Twist-1-confirmed Saethre-Chotzen syndrome: A 15 year review. Plast Reconstr Surg. 123:1801-1810, 2009
  54. Renier D, Arnaud E, Cinelli G, et al: Prognosis for mental function in Apert Syndrome. J Neurosurg 85: 66-72, 1996
  55. van Veelen ML, Mathijssen IM: Spring-assisted correction of sagittal suture synostosis. Childs Nerv Syst 28: 1347-51, 2012

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