Crouzon syndrome

Crouzon, 1912, Dysostose cranio-faciale hereditaire, Bull Mem Soc Med Hosp Paris, 33, 545 Fries, 1990, Congenital craniofacial anomalies of ophthalmic importance, Surv Ophthalmol, 35, 87, 10.1016/0039-6257(90)90067-6 Fogh-Andersen, 1943, Craniofacial dysostosis (Crouzon’s disease) as a dominant hereditary affection, Nord Med, 18, 993 Dodge, 1959, Craniofacial dysostosis. Crouzon’s disease, Pediatrics, 23, 98, 10.1542/peds.23.1.98 Franceschetti, 1968, Cranial dysostosis with pronounced digital impressions (pseudo-Crouzon dysostosis), 81 Gines, 1996, Crouzon disease with acanthosis nigricans and melanocytic nevi, Pediatr Dermatol, 13, 18, 10.1111/j.1525-1470.1996.tb01180.x Bertelson, 1958, The premature synostosis of the cranial sutures, Arch Ophthalmol, 5, 47 Jabs, 1994, Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2, Nat Genet, 8, 275, 10.1038/ng1194-275 Cohen, 1988, Craniosynostosis update 1987, Am J Med Genet, 4, 99, 10.1002/ajmg.1320310514 Cohen, 1992, Birth prevalence studies of the Crouzon syndrome, Clin Genet, 41, 12, 10.1111/j.1399-0004.1992.tb03620.x Gray, 2005, Ophthalmic sequelae of Crouzon syndrome, Ophthalmology, 112, 1129, 10.1016/j.ophtha.2004.12.037 Jarund, 1996, Craniofacial dysostosis, Scand J Plast Reconstr Surg Hand Surg, 30, 275, 10.3109/02844319609056405 Pinkerton, 1952, Hereditary craniofacial dysplasia, Am J Ophthalmol, 35, 500, 10.1016/0002-9394(52)91316-0 Chen H. Crouzon syndrome. eMedicine. Available at www.emedicine.com/PED/topic511.htm. Last accessed March 14, 2004. Cohen, 1975, An etiologic and nosologic overview of craniosynostosis syndromes, Birth Defects, 11, 137 Erneyi, 1966, Craniofacial dysplasia associated with congenital cataracta, impairment of hearing and brachydactyly, Am J Ophthalmol, 62, 697 Reardon, 1994, Crouzon Syndrome is not linked to craniosynostosis loci at 7p and 5qter, J Med Genet, 31, 219, 10.1136/jmg.31.3.219 Perlman, 1994, Bilateral keratoconus in Crouzon’s Syndrome, Cornea, 13, 80, 10.1097/00003226-199401000-00014 Posnick, 1995, Crouzon and Apert Syndromes. Intracranial volume measurements before and after cranio-orbital reshaping in childhood, Plast Reconstr Surg, 96, 539, 10.1097/00006534-199509000-00004 Waitzmann, 1992, Craniofacial skeletal measurements based on computed tomography. Part I. Accuracy and reproducibility, Cleft Palate-Craniofac J, 29, 112, 10.1597/1545-1569(1992)029<0112:CSMBOC>2.3.CO;2 Wolter, 1977, Bilateral keratoconus in Crouzon’s Syndrome with unilateral acute hydrops, J Pediatr Ophthalmol, 14, 141 Miklaszewska M, Szybejko-Machaj G. Crouzon syndrome. eMedicine. Available at www.emedicine.com/derm/topic734.htm. Last accessed March 14, 2004. Basar, 1992, Crouzon Sendromu, Turk Oftalmol Gaz, 22, 410 Rutland, 1995, Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes, Nat Genet, 9, 173, 10.1038/ng0295-173 Wilkes, 1996, A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans, J Med Genet, 33, 744, 10.1136/jmg.33.9.744 Jablonski S. Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. National Library of Medicine. Available at www.nlm.nih.gov/mesh/jablonski/syndrome_main.html. Last accessed March 24, 2004. Cohen, 1995, Craniosynostoses, Am J Med Genet, 56, 334, 10.1002/ajmg.1320560327 Posnick, 2000, The craniofacial dysostosis syndromes, Cleft Palate Craniofac J, 37, 433, 10.1597/1545-1569(2000)037<0433:TCDSCS>2.0.CO;2