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 Table of Contents  
CASE REPORT
Year : 2018  |  Volume : 10  |  Issue : 2  |  Page : 87-91

Crouzon's syndrome: A case report and review


Department of Oral Medicine and Radiology, Goa Dental College and Hospital, Bambolim, Goa, India

Date of Web Publication10-Sep-2018

Correspondence Address:
Candice Jacinta Antao
Sapana Valley, A-22, 4th Floor, Behind Adarsh High School, Pajifond, Margao - 403 601, Goa
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jorr.jorr_14_18

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  Abstract 


Crouzon's syndrome is a rare genetic disorder characterized by distinctive craniofacial malformations. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the 1st year of life. Herein, we report a case of this rare entity, a 12-year-old girl with Crouzon's syndrome, who displayed dysmorphic skull and facial features such as craniosynostosis, hypertelorism, exophthalmia, external strabismus, short upper lip, midfacial hypoplasia with a hypoplastic maxilla, and relative mandibular prognathism. The dentist can play an integral role in the multidisciplinary treatment the patients require. The genetic advising and an individual study of each case are essential to promote the improvement of the diagnosis. An early multidisciplinary approach is necessary, with specific therapeutic program aiming at the prevention of late diagnosis effects.

Keywords: Craniosynostosis, Crouzon's syndrome, maxillary hypoplasia


How to cite this article:
Antao CJ, Dinkar AD, Khorate M, Figueiredo NR. Crouzon's syndrome: A case report and review. J Oral Res Rev 2018;10:87-91

How to cite this URL:
Antao CJ, Dinkar AD, Khorate M, Figueiredo NR. Crouzon's syndrome: A case report and review. J Oral Res Rev [serial online] 2018 [cited 2018 Dec 14];10:87-91. Available from: http://www.jorr.org/text.asp?2018/10/2/87/240919




  Introduction Top


In 1912, a French neurologist, Octave Crouzon, first described Crouzon's syndrome as a rare genetic disorder involving the craniofacial skeleton development, characterized by a triad of cranial deformities (premature craniosynostosis), facial anomalies (midfacial hypoplasia), and exophthalmia.[1],[2],[3],[4],[5],[6] Crouzon's syndrome, has a prevalence of 1 in 25,000 live births worldwide, and it constitutes approximately 4.8% of all craniosynostosis.[1],[2],[3],[4],[5],[6],[7],[8] Despite being uncommon, there is a 50% risk of transmission when one parent has the disease, irrespective of the individual's sex.[1]

The underlying pathological process is premature synostosis of the coronal, sagittal, and occasionally lambdoid sutures, beginning in the 1st year of life.[1],[2],[3],[4],[5],[6],[9] Herein, we report one such case of Crouzon's syndrome demonstrating all the classical features.


  Case Report Top


A 12-year-old girl along with her mother reported to the Department of Oral Medicine and Radiology seeking dental treatment. The child presented with obvious dysmorphic cranial and facial features.

Review of medical history was unremarkable, specifically the prenatal, delivery, and postnatal history was found to be insignificant. Family history revealed that the father is speech and hearing impaired since birth. There were no anomalies in her mother and siblings. The child was not on medications and denied any medical allergies. Further medical history revealed that the mother noticed the altered shape of the head and face since the child was 6 months old. The child's pediatrician and psychologist had diagnosed her with Crouzon's syndrome, and bilateral profound speech and hearing impairment with borderline intelligence (75 IQ).

Extraoral examination revealed an elliptical-shaped head, with dolichofacial growth pattern, and concave facial profile. Enlarged cranial vault with frontal bossing, severe maxillary hypoplasia, and relative mandibular prognathism was evident. Ocular manifestations, such as prominent bilateral proptosis, hypertelorism, and strabismus, were present. Other findings included short and incompetent upper lip with a positive lip step and depressed nasal bridge [Figure 1]. There was absence of limb abnormalities.
Figure 1: (a-c) Extraoral photographs

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On intraoral examination, V-shape maxillary arch with high-arched palate, crowding of the maxillary teeth, and anterior crossbite were evident [Figure 2].
Figure 2: (a-e) Intraoral photographs

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On radiographic evaluation, Orthopantomogram revealed permanent dentition with erupting second molars, impacted maxillary right canine, and normal trabecular bone pattern [Figure 3]. The skull radiographs revealed scaphocephalic skull shape, with shallow orbits and hypoplastic midface (bilateral maxilla, maxillary sinuses, and zygoma). The coronal, sagittal and lambdoid sutures appeared obliterated. Prominent cranial markings or indentations of the inner surface of the cranial vault were seen appearing as multiple radiolucencies, producing the “hammered silver” (beaten metal/copper beaten skull) appearance, indicating internal remodeling of the calvaria due to an increase in intracranial pressure caused by premature cranial suture fusion [Figure 4] and [Figure 5].
Figure 3: Orthopantomogram

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Figure 4: True lateral skull view

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Figure 5: Posteroanterior skull view

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Systemic examination was found to be normal. Routine hematological and biochemical tests were within normal limits.

Treatment plan involving prophylactic and therapeutic approach was formulated for the patient. This included regular mechanical and chemical professional plaque control, with fluoride and chlorhexidine applications to control the carious activity and restoration of existing carious lesions. She has been referred for orthodontic correction of malocclusion and is also being considered for further treatment by oral and maxillofacial surgeons, pediatricians, and psychologists for her requirements. Regular follow-up has been advised.


  Discussion Top


The Crouzon's syndrome, otherwise known as craniofacial dysostosis or Type I Crouzon's disease, is a rare genetic disorder with autosomal dominant inheritance.[1],[2],[3],[4],[5],[6],[9] Octave Crouzon in 1912, first described the hereditary syndrome of craniofacial dysostosis and Atkinson in 1937, reviewed 86 cases that were published and found about 67% of the cases were familial and 33% were sporadic, representing new mutations.[6]

Pathophysiology

This genetic defect appears to emanate from the mutation of fibroblast growth factor receptor 2 (FGFR2) on chromosome locus 10q25-q26, resulting in early fusion of skull bones during fetal development.[1],[2],[3] The fibroblast growth factors are intrinsically related to the extracellular matrix. When the extracellular matrix presents mutation of FGFR2, it begins to secrete cytokines both in autocrine and paracrine manner, and these may modify the very matrix. It is allegeable that such changes alter the osteogenic process, which explains the pathologic variations found.[9]

Once a suture gets fused, growth perpendicular to that suture gets restricted, and the fused bones act as a single bony structure. Compensatory growth occurs at the remaining open sutures to allow continued brain growth causing abnormal bone growth.[1],[3] Multiple premature sutural synostosis in the skull base sutures eventually leads to facial deformities as visible in our patient.

Craniosynostosis commonly begins during the 1st year of life and is usually complete by 2–3 years of age.[10] In our patient, the dysmorphic features were evident at 6 months of age. The order and rate of synostosis determine the degree of deformity and disability.[1],[3] The shape of the cranial vault can vary from brachycephaly to scaphocephaly (boat-shaped head), oxycephaly, plagiocephaly, trigonocephaly or in severe disease cloverleaf skull (kleeblattschädel) like deformity.[3],[5],[10] In the present case, premature sutural synostosis led to compensatory growth at the remaining open sutures, resulting in an elongated narrow scaphocephalic skull with frontal bossing.

Clinical manifestations

In general, psychomotor development is normal, and their mental ability is usually within the normality.[1],[2],[3] However, some reports of mental retardation have been related to the restricted brain development secondary to increased intracranial pressure resulting from premature synostosis.[1],[8],[9] The associated features of Crouzon's syndrome are shown in [Table 1].[1],[3],[5],[6],[7],[9],[10]
Table 1: Craniomaxillofacial abnormalities associated with Crouzon's syndrome

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Our patient presented with cranial features as well as the two characteristic facial features of Crouzon's syndrome which are maxillary hypoplasia and exophthalmia. Exophthalmia arises due to shallow orbits caused by arrested growth of the zygomaticomaxillary complex and anterior positioning of the greater wing of sphenoid.[7] Blindness from optic atrophy secondary to intracranial hypertension can also occur if the condition is not treated.[3],[6],[10] The girl also presented with bilateral hearing impairment and research suggests approximately one-third of the patients with Crouzon's syndrome suffer from the conductive nonprogressive hearing loss.[1],[3] Dental arch width is also reduced, and the constricted arch gives the appearance of highly arched palate, although palatal height is normal by measurement.[1],[3] Our patient showed no calcification of the stylohyoid ligament or cervical spine anomalies.

Differential diagnosis

The differential diagnosis of Crouzon's syndrome includes simple craniosynostosis as well as Apert syndrome, Pfeiffer syndrome, Carpenters syndrome, Saethre-Chotzen syndrome, and Jackson–Weiss syndrome. Patients with associated acanthosis nigricans can have FGFR3 mutation.[4],[5],[6] Apert syndrome has findings similar to those of Crouzon's syndrome but with symmetric syndactyly of the hands and feet usually involving the second, third, and fourth digits.[3],[4],[5] In case of Pfeiffer syndrome broad thumbs, broad big toes and partial soft-tissue syndactyly of the hands and feet will be present in addition to the features of Crouzon's syndrome.[4],[5],[7]

Management

Management of Crouzon's disease is multidisciplinary and early diagnosis is critical to avoid complications such as intracranial hypertension as well as blindness. In the 1st year of life, the synostotic skull sutures should be surgically released to provide adequate cranial volume for brain growth. Skull reshaping may need to be repeated as the child grows, to provide the best possible results.[2] Midfacial hypoplasia also needs correction to provide adequate orbital volume and reduce exophthalmoses, to correct the occlusion to an appropriate functional position, and to provide for a more normal appearance.[3] It is one of the few syndromes where the cosmetic results of plastic surgery can be strikingly effective.[1],[3]

Prognosis depends on malformation severity. Craniosynostosis can result in brain compression and mental retardation unless relieved by early craniectomy.[3] Our patient was never treated for the condition owing to the parents' lack of awareness. Considering the age of our patient, we formulated a treatment plan that includes orthodontic correction of malocclusion and orthognathic surgery if deemed necessary.

Thorough clinical, radiological, and genetic analysis is required for early diagnosis. Prenatal diagnostic testing for FGFR gene mutation is an option for couples at risk for having a child with Crouzon's syndrome. Ultrasonic prenatal diagnosis of exophthalmia might give a clue regarding the developing problems.[10]


  Conclusion Top


Crouzon's syndrome is one of the relatively rare genetic syndromes. There is a need to alert the health professionals to its occurrence as it causes severe consequences to their carriers, mainly when faced with a late diagnosis. Dental professionals should have sufficient knowledge of syndromes associated with craniofacial dysmorphism, to identify such patients who are unaware of their condition and to ensure that the patient receives the best available care. The dentist should play an integral role in the multidisciplinary approach to the management of a patient of Crouzon's syndrome.

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.
Da Silva DL, Palheta Neto FX, Carneiro SG, Palheta ACP, Monteiro M, Cunha SC, et al. Crouzon's Syndrome: Literature Review. Intl Arch Otorhinolaryngol 2008;12:436-41.  Back to cited text no. 1
    
2.
Hlongwa P. Early orthodontic management of crouzon syndrome: A case report. J Maxillofac Oral Surg 2009;8:74-6.  Back to cited text no. 2
    
3.
Bowling EL, Burstein FD. Crouzon syndrome. Optometry 2006;77:217-22.  Back to cited text no. 3
    
4.
Cohen MM. Perspectives on craniosynostosis. West J Med 1980;132:507-13.  Back to cited text no. 4
    
5.
Cohen MM Jr., editor. Crouzon syndrome. In: Craniosynostosis: Diagnosis, Evaluation, and Management. 2nd ed. New York: Oxford University Press; 2000. p. 361.  Back to cited text no. 5
    
6.
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. 6
    
7.
Kaur H, Waraich HS, Sharma CM. Crouzon syndrome: A case report and review of literature. Indian J Otolaryngol Head Neck Surg 2006;58:381-2.  Back to cited text no. 7
    
8.
Cohen MM Jr., Kreiborg S. Birth prevalence studies of the crouzon syndrome: Comparison of direct and indirect methods. Clin Genet 1992;41:12-5.  Back to cited text no. 8
    
9.
Carinci F, Avantaggiato A, Curioni C. Crouzon syndrome: Cephalometric analysis and evaluation of pathogenesis. Cleft Palate Craniofac J 1994;31:201-9.  Back to cited text no. 9
    
10.
Kyprianou C, Chatzigianni A. Crouzon syndrome: A comprehensive review. Balk J Dent Med2018;22:1-6.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
 
 
    Tables

  [Table 1]



 

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