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CASE REPORT
Year : 2017  |  Volume : 6  |  Issue : 2  |  Page : 114-117

Crouzon syndrome: A comprehensive review and case report


Department of Orthodontics and Dental Anatomy, Dr. Ziauddin Ahmad Dental College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India

Date of Web Publication13-Jun-2017

Correspondence Address:
Aditi Gaur
Department of Orthodontics and Dental Anatomy, Dr. Ziauddin Ahmad Dental College, Aligarh Muslim University, Aligarh, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2277-8632.208004

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  Abstract 

Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis of coronal and sagittal sutures. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor-2 (FGFR-2) gene. Other characteristic features of Crouzon syndrome include exophthalmos, midfacial hypoplasia, and mandibular prognathism. The present article describes a case report of a 13-year-old male patient with characteristic skeletal and dental features of Crouzon syndrome.

Keywords: Craniosynostosis, Crouzon syndrome, prognathism


How to cite this article:
Gaur A, Maheshwari S, Verma SK, Tariq M. Crouzon syndrome: A comprehensive review and case report. J NTR Univ Health Sci 2017;6:114-7

How to cite this URL:
Gaur A, Maheshwari S, Verma SK, Tariq M. Crouzon syndrome: A comprehensive review and case report. J NTR Univ Health Sci [serial online] 2017 [cited 2020 May 27];6:114-7. Available from: http://www.jdrntruhs.org/text.asp?2017/6/2/114/208004




  Introduction Top


The term “craniofacial anomalies” literally encompasses all congenital deformities of the cranium and the face. More specifically, however, the term has come to imply congenital deformities of the head that interfere with physical and mental well-being.[1] Most craniofacial anomalies and dentofacial deformities result from inherited mutations and aberrant environmental modulation of multiple genes. Craniosynostosis is the term used to describe premature fusion of one or more cranial sutures in utero. Crouzon syndrome is an autosomal dominant disorder with complete penetrance characterized by premature synostosis of coronal and sagittal sutures that begins in the first year of life.[2] It was first described by a French neurosurgeon Octave Crouzon in 1912.[3] Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor-2 (FGFR-2) gene.[4] Once the sutures become closed, growth potential to those sutures is restricted. Intraoral manifestations include mandibular prognathism, reverse overjet, and V-shaped maxillary dental arch.[5] Narrow, high, or cleft palate and bifid uvula can be seen as well. Occasional oligodontia, macrodontia, peg-shaped, and widely spaced teeth have been reported.

Crouzon syndrome has an incidence of approximately one in 25,000 births worldwide.[6] It constitutes 4.8% of all cases of craniosynostoses.[7] Crouzon syndrome does not have any sex predilection.[8]


  Case Report Top


A 13-year-old male patient reported with his parents to the Department of Orthodontics with the chief complaint of irregularly placed teeth. Past medical history from the parents revealed that the features started developing slowly after birth and was diagnosed as Crouzon syndrome at the age of 11 months and the patient had undergone cranial surgery to relieve closed sutures of the skull at the same age. On extraoral examination, it was observed that the patient had an asymmetrical, leptoprosopic face. The patient had hypertelorism with exophthalmos and a typical parrot beak-like appearance of the nose. The profile of the patient was concave with lip incompetence. The patient had a nonconsonant smile [Figure 1]a,[Figure 1]b,[Figure 1]c,[Figure 1]d.
Figure 1: (a-d) Extraoral photographs

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Intraoral examination revealed an anterior crossbite with unerupted maxillary canines and labially erupting mandibular canines. The molars were in Angle's class III relationship. The palate was narrow and high-arched [Figure 2]a,[Figure 2]b,[Figure 2]c,[Figure 2]d,[Figure 2]e.
Figure 2: (a-e) Intraoral photographs

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Lateral cephalogram indicated toward a skeletal Class III malocclusion with a hypoplastic maxilla and prognathic mandible. The patient had a hyperdivergent growth pattern [Figure 3]. Orthopantomogram findings showed permanent dentition with erupting maxillary canines [Figure 4]. The diagnostic records of the patient were evaluated and the patient was considered for orthodontic management followed by surgical treatment after growth completion.
Figure 3: Lateral cephalogram

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Figure 4: Orthopantomogram

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  Discussion Top


Craniosynostosis is the term used to describe premature fusion of one or more cranial sutures in utero. Cohen (1979) listed 57 craniosynostosis syndromes, as well as 22 combinations with secondary or occasional craniosynostosis.[9] Crouzon syndrome is an autosomal-dominant disorder with premature synostosis of frontal and parietal sutures.

Crouzon syndrome is caused by discrete point mutations in the FGFR-2 genes which are known to affect suture development. FGFRs are transmembrane receptor tyrosine kinase proteins. They are composed of an extracellular domain with three immunoglobulin-like domains (IgI, IgII, and IgIII), a transmembrane domain, and a split tyrosine kinase domain. There are four tyrosine kinase receptors of this protein family. Three of these receptors, FGFR1, FGFR2, and FGFR3 are known to be mutated in most of craniosynostosis cases. The FGFRs are coded by genes with approximately 20 exons. The genomic structure of FGFR2 is the largest of this receptor gene family.[10] More than 26 different mutations primarily in exons IIIa and IIIc, which code for ligand binding and extracellular domain of FGFR2, have been idendified in Crouzon syndrome patients. In Crouzon syndrome, several mutations of FGFR2 were identified in exon IIIa and missense and splice-site mutations were identified in exon IIIc.[11],[12],[13]

Crouzon syndrome is characterized by craniosynostosis, ocular proptosis, shallow orbits, and maxillary hypoplasia. The patients are often associated with impaired vision and dental malocclusions. The patient might have upper airway obstructions causing respiratory distress.[14]

Management of Crouzon syndrome is multidisciplinary and early diagnosis is important. In the first year of life, it is preferred to release the synostotic sutures of the skull to allow adequate cranial volume, thus allowing for brain growth and expansion.[15]

Orthodontic evaluation should begin at an early age in these children. Early intervention would help in correction of the developing anterior crossbite, the development of skeletal class III deformity, and associated functional abnormalities.

Nonsurgical management of Crouzon syndrome can be done using orthopedic appliances and orthodontic therapy. The orthopedic force of the rapid maxillary expansion (RME)-facemask therapy stimulates cellular activity in circummaxillary sutures and maxillary tubercula, and this facilitates maxillary forward displacement.[10] To obtain successful forward movement, it is essential that the patient is in growing stage (prepubertal). Surgical intervention is usually required for midfacial advancement to improve the sagittal discrepancies and to relieve the intraocular pressure, thus improving the esthetics and function of the patient.


  Conclusion Top


Management of craniofacial deformities often requires multidisciplinary team involvement. Clinicians must be able to recognize the characteristic features of the various craniofacial syndromes so that an early diagnosis and referral for specialized care can be done. Craniofacial syndromes, if diagnosed at any early stage, can be managed by orthopedic growth modification, thus avoiding the need for major facial surgeries and additionally benefiting the psychological development of the patient.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/ their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Marsh JL, Vannier MW. Cranial Deformities Comprehensive Care for Craniofacial Deformities. St. Louis: Mosby; 1985. p. 154.  Back to cited text no. 1
    
2.
Fogh-Andersen P. Craniofacial dysostosis (Crouzon's disease) as a dominant hereditary affection. Nord Med 1943;18:993-6.  Back to cited text no. 2
    
3.
Crouzon O. Dysostose craniofaciale hereditaire. Bull Mem Soc Med Hosp Paris 1912;33:545-55.  Back to cited text no. 3
    
4.
Fries PD, Katowitz JA. Congenital craniofacial anomalies of ophthalmic importance. Surv Ophthalmol 1990;35:87-119.  Back to cited text no. 4
    
5.
Padmanabhan V, Hegde AM, Rai K. Crouzon's syndrome: A review of literature and case report. Contemp Clin Dent 2011;2:211-4.  Back to cited text no. 5
[PUBMED]  [Full text]  
6.
Singer SL, Walpole I, Brogan WF, Goldblatt J. Dentofacial features of a family with Crouzon syndrome. Case reports. Aust Dent J 1997;42:11-7.  Back to cited text no. 6
    
7.
Gray TL, Casey T, Selva D, Anderson PJ, David DJ. Ophthalmic sequelae of Crouzon syndrome. Ophthalmology 2005;112:1129-34.  Back to cited text no. 7
    
8.
Hlongwa P. Early orthodontic management of Crouzon syndrome: A case report. J Maxillofac Oral Surg 2009;8:74-6.  Back to cited text no. 8
    
9.
Cohen MM Jr. Craniosynostosis and syndromes with craniosynostosis: Incidence, genetics, penetrance, variability, and new syndrome updating. Birth Defects Orig Artic Ser 1979;15:13-63.  Back to cited text no. 9
    
10.
Ingersoll RG, Paznekas WA, Tran AK, Scott AF, Jiang G, Jabs EW. Fibroblast growth factor receptor 2 (FGFR2): Genomic sequence and variations. Cytogenet Cell Genet 2001;94:121-6.  Back to cited text no. 10
    
11.
Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al. Apert syndrome results from localized mutations of FGFR2 and allelic with Crouzon syndrome. Nat Genet 1995;9:165-72.  Back to cited text no. 11
    
12.
Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, et al. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 1994;8:275-9.  Back to cited text no. 12
    
13.
Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor 2 gene cause Crouzon syndrome. Nat Genet 1994;8:98-103.  Back to cited text no. 13
    
14.
Järund M, Lauritzen C. Craniofacial dysostosis: Airway obstruction and craniofacial surgery. Scand J Plast Reconstr Surg Hand Surg 1996;30:275-9.  Back to cited text no. 14
    
15.
Hlongwa P. Early orthodontic management of Crouzon syndrome: A case report. J Maxillofac Oral Surg 2009;8:74-6.  Back to cited text no. 15
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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