Johnson D, Wilkie AO. Craniosynostosis. Eur J Hum Genet. 2011 Apr. 19 (4):369-76. [QxMD MEDLINE Link]. [Full Text].
Ko JM. Genetic Syndromes Associated with Craniosynostosis. J Korean Neurosurg Soc. 2016 May. 59 (3):187-91. [QxMD MEDLINE Link]. [Full Text].
Cohen MM Jr. Craniosynostosis update 1987. Am J Med Genet Suppl. 1988. 4:99-148. [QxMD MEDLINE Link].
Cohen MM Jr, Kreiborg S. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet. 1992 Jan. 41(1):12-5. [QxMD MEDLINE Link].
Reardon W, Winter RM, Rutland P. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet. 1994 Sep. 8(1):98-103. [QxMD MEDLINE Link].
Ahmed I, Afzal A. Diagnosis and evaluation of Crouzon syndrome. J Coll Physicians Surg Pak. 2009 May. 19(5):318-20. [QxMD MEDLINE Link].
Hlongwa P. Early orthodontic management of Crouzon Syndrome: a case report. J Maxillofac Oral Surg. 2009 Mar. 8 (1):74-6. [QxMD MEDLINE Link]. [Full Text].
Roscioli T, Elakis G, Cox TC, et al. Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. Am J Med Genet C Semin Med Genet. 2013 Nov. 163C (4):259-70. [QxMD MEDLINE Link].
Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV. Syndromic craniosynostosis: from history to hydrogen bonds. Orthod Craniofac Res. 2007 May. 10 (2):67-81. [QxMD MEDLINE Link].
Lu X, Forte AJ, Sawh-Martinez R, et al. Orbit, zygoma, and maxilla growth patterns in Crouzon syndrome. Int J Oral Maxillofac Surg. 2018 Oct 30. [QxMD MEDLINE Link].
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007 Sep. 14 (3):150-61. [QxMD MEDLINE Link]. [Full Text].
Sharma VP, Wall SA, Lord H, Lester T, Wilkie AO. Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis. Cleft Palate Craniofac J. 2012 May. 49 (3):373-7. [QxMD MEDLINE Link].
Golabi M. Radiographic abnormalities of Crouzon syndrome. Proc Greenwood Genetic Ctr. 1984. 3:102.
Glaser RL, Jiang W, Boyadjiev SA, et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 2000 Mar. 66 (3):768-77. [QxMD MEDLINE Link]. [Full Text].
Jones KL, Smith DW, Harvey MA, Hall BD, Quan L. Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86 (1):84-8. [QxMD MEDLINE Link].
Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A. [Chiari "malformation" in Crouzon syndrome]. Arch Pediatr. 1996 May. 3 (5):433-9. [QxMD MEDLINE Link].
Aguado AM, Lobo-Rodriguez B, Blanco-Menendez R, Alvarez-Carriles JC, Vera de la Puente E. [Neuropsychological implications of Crouzon syndrome: a case report]. Rev Neurol. 1999 Dec 1-15. 29 (11):1040-4. [QxMD MEDLINE Link].
Fernandes MB, Maximino LP, Perosa GB, Abramides DV, Passos-Bueno MR, Yacubian-Fernandes A. Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. Am J Med Genet A. 2016 Jun. 170 (6):1532-7. [QxMD MEDLINE Link].
Cohen MM Jr, Kreiborg S. A clinical study of the craniofacial features in Apert syndrome. Int J Oral Maxillofac Surg. 1996 Feb. 25 (1):45-53. [QxMD MEDLINE Link].
Lopez-Rangel E, Van Allen MI. Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype. Birth Defects Res A Clin Mol Teratol. 2005 Nov. 73 (11):919-23. [QxMD MEDLINE Link].
Rutland P, Pulleyn LJ, Reardon W. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet. 1995 Feb. 9(2):173-6. [QxMD MEDLINE Link].
Wilkie AO, Slaney SF, Oldridge M. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995 Feb. 9(2):165-72. [QxMD MEDLINE Link].
M Das J, Bhimji SS. Pfeiffer Syndrome. 2018 Jan. [QxMD MEDLINE Link]. [Full Text].
Gorlin RJ, Cohen MM Jr., Hennekam RCM, eds. Syndromes of the Head and Neck. 4th ed. New York, NY: Oxford; 2001.
Kan SH, Elanko N, Johnson D, et al. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet. 2002 Feb. 70 (2):472-86. [QxMD MEDLINE Link]. [Full Text].
Lin Y, Gao H, Ai S, et al. FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. Mol Med Rep. 2017 Nov. 16 (5):5841-6. [QxMD MEDLINE Link]. [Full Text].
Mangasarian K, Li Y, Mansukhani A, Basilico C. Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2. J Cell Physiol. 1997 Jul. 172 (1):117-25. [QxMD MEDLINE Link].
Britto JA, Evans RD, Hayward RD, Jones BM. From genotype to phenotype: the differential expression of FGF, FGFR, and TGFbeta genes characterizes human cranioskeletal development and reflects clinical presentation in FGFR syndromes. Plast Reconstr Surg. 2001 Dec. 108 (7):2026-39; discussion 2040-6. [QxMD MEDLINE Link].
Robertson SC, Meyer AN, Hart KC, Galvin BD, Webster MK, Donoghue DJ. Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain. Proc Natl Acad Sci U S A. 1998 Apr 14. 95 (8):4567-72. [QxMD MEDLINE Link]. [Full Text].
Di Rocco F, Collet C, Legeai-Mallet L, et al. Crouzon syndrome with acanthosis nigricans: a case-based update. Childs Nerv Syst. 2011 Mar. 27(3):349-54. [QxMD MEDLINE Link].
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. 1997 Mar. 60(3):555-64. [QxMD MEDLINE Link].
Kreiborg S. Crouzon syndrome. a clinical and roentgencephalometric study. Scand J Plast Reconstr Surg Suppl. 1981. 18:1-198. [QxMD MEDLINE Link].
Bagheri SC. Syndromes of the head and neck. Bagheri SC, ed. Clinical Review of Oral and Maxillofacial Surgery: A Case-Based Approach. 2nd ed. Maryland Heights, Mo: Mosby; 2014. 457-87.
Cohen MM Jr. Editorial: perspectives on craniosynostosis. Am J Med Genet A. 2005 Aug 1. 136A(4):313-26. [QxMD MEDLINE Link].
Peterson SJ, Pruzansky S. Palatal anomalies in the syndromes of Apert and Crouzon. Cleft Palate J. 1974 Oct. 11:394-403. [QxMD MEDLINE Link].
Renier D, Lajeunie E, Arnaud E, Marchac D. Management of craniosynostoses. Childs Nerv Syst. 2000 Nov. 16 (10-11):645-58. [QxMD MEDLINE Link].
Shipster C, Hearst D, Somerville A, Stackhouse J, Hayward R, Wade A. Speech, language, and cognitive development in children with isolated sagittal synostosis. Dev Med Child Neurol. 2003 Jan. 45 (1):34-43. [QxMD MEDLINE Link].
Magge SN, Westerveld M, Pruzinsky T, Persing JA. Long-term neuropsychological effects of sagittal craniosynostosis on child development. J Craniofac Surg. 2002 Jan. 13 (1):99-104. [QxMD MEDLINE Link].
Robin NH, Falk MJ, Haldeman-Englert CR, et al. FGFR-Related Craniosynostosis Syndromes. GeneReviews. 1998 Oct 20; updated 2011 Jun 7. [QxMD MEDLINE Link]. [Full Text].
Goriely A, Lord H, Lim J, et al. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. Am J Med Genet A. 2010 Aug. 152A(8):2067-73. [QxMD MEDLINE Link].
Tay T, Martin F, Rowe N, Johnson K, Poole M, Tan K. Prevalence and causes of visual impairment in craniosynostotic syndromes. Clin Experiment Ophthalmol. 2006 Jul. 34(5):434-40. [QxMD MEDLINE Link].
Gray TL, Casey T, Selva D, Anderson PJ, David DJ. Ophthalmic sequelae of Crouzon syndrome. Ophthalmology. 2005 Jun. 112(6):1129-34. [QxMD MEDLINE Link].
Taglialatela Scafati C, Aliberti F, Taglialatela Scafati S, Mangone GM, Taglialatela Scafati M. The value of the maxillo-malar osteotomy in the treatment of Crouzon syndrome with exorbitism. Ann Plast Surg. 2008 Sep. 61(3):285-9. [QxMD MEDLINE Link].
Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 2014 Dec. 78(12):2037-47. [QxMD MEDLINE Link].
Fenwick AL, Goos JA, Rankin J, et al. Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. BMC Med Genet. 2014 Aug 31. 15:95. [QxMD MEDLINE Link]. [Full Text].
Mir A, Wu T, Orlow SJ. Cutaneous features of crouzon syndrome with acanthosis nigricans. JAMA Dermatol. 2013 Jun 1. 149(6):737-41. [QxMD MEDLINE Link].
Suh YJ, Bae HS, Choi JY, et al. A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome. J Cell Biochem. 2014 Jan. 115 (1):102-10. [QxMD MEDLINE Link].