Crouzon Syndrome

1. Ignatowicz R, Gdakowicz B. [Craniofacial dysostosis of the Crouzon type]. Wiad Lek. 1971 Feb 15. 24(4):363-6. [Medline].

2. Maeda T, Hatakenaka M, Muta H, Nakayama M, Nakazaki Y, Hiroyama T, et al. Clinically mild, atypical, and aged craniofacial syndrome is diagnosed as Crouzon syndrome by identification of a point mutation in the fibroblast growth factor receptor 2 gene (FGFR2). Intern Med. 2004 May. 43(5):432-5. [Medline].

3. Miklaszewska M. Dysostosis cranio-facialis hederitaria. Miklaszewska M, Wasik F, eds. Dermatologia Pediatryczna. Wrocaw, Poland: Volumed; 2000. Vol 2: 650-4.

4. Miklaszewska M, Racawska A, Ziarkiewicz M. Syndroma Crouzon and syndromal acanthosis nigricans. Demonstration of case on the meeting of Polish Dermatological Society. February 1990.

5. Posnick JC, Ruiz RL. The craniofacial dysostosis syndromes: current surgical thinking and future directions. Cleft Palate Craniofac J. 2000 Sep. 37(5):433. [Medline].

6. Gines E, Rodriguez-Pichardo A, Jorquera E, Moreno JC, Camacho F. Crouzon disease with acanthosis nigricans and melanocytic nevi. Pediatr Dermatol. 1996 Jan-Feb. 13(1):18-21. [Medline].

7. Helman SN, Badhey A, Kadakia S, Myers E. Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. Oral Maxillofac Surg. 2014 Sep 24. [Medline].

8. Bodo M, Baroni T, Carinci F, Becchetti E, Conte C, Bellucci C, et al. Interleukin secretion, proteoglycan and procollagen alpha(1)(I) gene expression in Crouzon fibroblasts treated with basic fibroblast growth factor. Cytokine. 2000 Aug. 12(8):1280-3. [Medline].

9. Eswarakumar VP, Horowitz MC, Locklin R, Morriss-Kay GM, Lonai P. A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. Proc Natl Acad Sci U S A. 2004 Aug 24. 101(34):12555-60. [Medline].

10. Kress W, Collmann H, Büsse M, Halliger-Keller B, Mueller CR. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenet Cell Genet. 2000. 91(1-4):134-7. [Medline].

11. Wilkes D, Rutland P, Pulleyn LJ, Reardon W, Moss C, Ellis JP, et al. A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. J Med Genet. 1996 Sep. 33(9):744-8. [Medline].

12. Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA, et al. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet. 2001 Jan 1. 98(1):75-91. [Medline].

13. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet. 1995 Dec. 11(4):462-4. [Medline]. [Full Text].

14. Fenwick AL, Goos JA, Rankin J, Lord H, Lester T, Hoogeboom AJ, et al. Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. BMC Med Genet. 2014 Aug 31. 15:95. [Medline].

15. Cohen MM Jr. Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. Am J Med Genet. 1999 May 7. 84(1):74. [Medline].

16. Ernyei S. Craniofacial dysplasia associated with congenital cataract, impairment of hearing and brachydactyly. Am J Ophthalmol. 1966 Oct. 62(4):697-702. [Medline].

17. Kowalski M, Paszkowska M, Bryjanowska L. [A case of Crouzon's syndrome with coexistance of other congenital anomalies (author's transl)]. Klin Oczna. 1977 Oct. 47(10):445-7. [Medline].

18. Maspero C, Giannini L, Galbiati G, Kairyte L, Farronato G. Non surgical treatment of Crouzon Syndrome. Stomatologija. 2014. 16(2):72-80. [Medline].

19. Rathee M, Tamrakar AK, Kundu R, Yunus N. Three-dimensional precise orientation of bilateral auricular trial prosthesis using a facebow for a young adult with Crouzon syndrome. BMJ Case Rep. 2014 Aug 5. 2014:[Medline].

20. Meling TR, Høgevold HE, Due-Tønnessen BJ, Skjelbred P. Comparison of perioperative morbidity after LeFort III and monobloc distraction osteogenesis. Br J Oral Maxillofac Surg. 2010 Mar 10. [Medline].

21. Opitz C, Ring P, Stoll C. Orthodontic and surgical treatment of patients with congenital unilateral and bilateral mandibulofacial dysostosis. J Orofac Orthop. 2004 Mar. 65(2):150-63. [Medline].

22. Scolozzi P, Herzog G, Jaques B. Simultaneous maxillo-mandibular distraction osteogenesis in hemifacial microsomia: a new technique using two distractors. Plast Reconstr Surg. 2006 Apr 15. 117(5):1530-41; discussion 1542. [Medline].

23. Tessier P. The definitive plastic surgical treatment of the severe facial deformities of craniofacial dysostosis. Crouzon's and Apert's diseases. Plast Reconstr Surg. 1971 Nov. 48(5):419-42. [Medline].

24. Kobayashi S, Nishiouri T, Maegawa J, Hirakawa T, Fukawa T. A novel craniofacial osteogenesis distraction system enabling control of distraction distance and vector for the treatment of syndromic craniosynostosis. J Craniofac Surg. 2012 Mar. 23(2):422-5. [Medline].

25. Ko EW, Chen PK, Tai IC, Huang CS. Fronto-facial monobloc distraction in syndromic craniosynostosis. Three-dimensional evaluation of treatment outcome and facial growth. Int J Oral Maxillofac Surg. 2012 Jan. 41(1):20-7. [Medline].

26. Nakajima H, Sakamoto Y, Tamada I, Ohara H, Kishi K. An internal distraction device for Le Fort distraction osteogenesis: the NAVID system. J Plast Reconstr Aesthet Surg. 2012 Jan. 65(1):61-7. [Medline].

27. Kuroda S, Watanabe K, Ishimoto K, Nakanishi H, Moriyama K, Tanaka E. Long-term stability of LeFort III distraction osteogenesis with a rigid external distraction device in a patient with Crouzon syndrome. Am J Orthod Dentofacial Orthop. 2011 Oct. 140(4):550-61. [Medline].

28. Bemmels H, Biesecker B, Loewenstein J, Krokosky A, Guidotti R, Sutton EJ. Psychological and Social Factors in Undergoing Reconstructive Surgery Among Individuals with Craniofacial Conditions: An Exploratory Study. Cleft Palate Craniofac J. 2012 Feb 8. [Medline].

Lukasz Matusiak, MD, PhD Assistant, Department and Clinic of Dermatology, Venereology and Allergology, Medical University of Wroclaw

Disclosure: Nothing to disclose.

Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; .

Grazyna Szybejko-Machaj, MD, PhD Assistant Professor, Department of Dermatology, Wroclaw Medical University

Disclosure: Nothing to disclose.

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Mieczyslawa Miklaszewska, MD, to the development and writing of this article.

• Print this section
• Print the entire contents of