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CASE REPORT
Year : 2013  |  Volume : 31  |  Issue : 2  |  Page : 118-120
 

Crouzons syndrome: A case report with review of literature


1 Department of Oral Medicine and Radiology, SGT Dental College, Budhera, Gurgaon, Haryana, India
2 Department of Oral Medicine and Radiology, DAPMRV Dental College, Bangalore, Karnataka, India

Date of Web Publication26-Jul-2013

Correspondence Address:
R Tanwar
Department of Oral Medicine and Radiology. SGT Dental College, Budhera, Gurgaon 123 505
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.115716

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   Abstract 

Louis Edouard Octave Crouzon, a French neurologist, in 1912, described the hereditary syndrome of craniofacial synostosis in a mother and son. He described the triad as skull deformities, facial anamolies and exopthalmos now known as Crouzon syndrome (CS). CS accounts for about 4.8% of all cases of craniosynostosis. We report a case of CS in 4 year old girl with characteristic features of cranial deformity, maxillary hypoplasia, cleft palate and exopthalmos.


Keywords: Beaten copper appearance, craniosynostosis, crouzon syndrome


How to cite this article:
Tanwar R, Iyengar A R, Nagesh K S, Subhash B V. Crouzons syndrome: A case report with review of literature. J Indian Soc Pedod Prev Dent 2013;31:118-20

How to cite this URL:
Tanwar R, Iyengar A R, Nagesh K S, Subhash B V. Crouzons syndrome: A case report with review of literature. J Indian Soc Pedod Prev Dent [serial online] 2013 [cited 2020 May 27];31:118-20. Available from: http://www.jisppd.com/text.asp?2013/31/2/118/115716



   Introduction Top


CS is an autosomal dominant genetic disease with an incidence of 1 in 25,000 births. The clinical features have wide phenotypic variability and consist of bicoronal craniosynostosis, exorbitism with hypertelorism, maxillary hypoplasia with mandibular prognathism and normal intelligence. In this article, we present a case of CS in a 4 year old girl.


   Case Report Top


A 4 years old female patient reported to the Department of Oral Medicine and Radiology, RV Dental College and Hospital, Bangalore, India in February 2010, with difficulty in swallowing due to cleft in the roof of the mouth. She was referred by a Pediatrician for dental evaluation. On general examination, the girl was short statured, had wide nasal bridge and moderate exopthalamos, irregularly shaped cranial vault with the right side of the head being more prominent, mild brachycephaly flat occiput, depressed nasal bridge and potentially competent lips, everted lower lip, flattening of the face was evident with maxillary hypoplasia with pseudo prognathism of mandible [Figure 1] The patient did not have any digital abnormalities or hearing defects. Opthalamic evaluation revealed hypertelorism, divergent strabismus in the primary position and bilateral papillary oedema. On oral examination, cleft was seen in the hard palate posterior to rugae area extending till fovea palatine. Maxillary arch was v shaped, with high arched palate and Angles class III malocclusion [Figure 2]. Her oral hygiene was fairly good with dental caries present in 64, 65 and 74, 76. On enquiring mother informed that the patient was the first child of clinically healthy parents of non consanguineous marriage. History revealed that above mentioned features started developing gradually and cleft was present since birth.
Figure 1: Patient profi le picture

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Figure 2: Intraoral pictures showing cleft in the hard palate and class III malocclusion

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Lateral skull view demonstrated retruded maxilla with relatively large mandible and copper beaten appearance in skull [Figure 3].
Figure 3: Lateral cephalograph showing copper beaten appearance in skull

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Computed tomography (CT) scan of the brain shows hydrocephalus with convulsions in the inner table of skull [Figure 4].
Figure 4: CT brain illustrating hydrocephalus with convulsions in inner table of the skull

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3D CT images early fusion of the coronal and lambdoid sutures, shallow and widely spaced orbits, hypoplastic maxilla and zygoma, and diffuse indentation of the skull [Figure 5].
Figure 5: 3D CT showing synostosis in coronal suture

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Based on the above clinical and radiological findings and in the absence of hand and feet anomalies, a diagnosis of CS was made. Parents were well informed about the nature of child diseases and complication involved if left untreated.

Patient was also referred to oral and maxillofacial surgeon for correction of cleft palate and neurosurgeon for craniosynostosis and raised intracranial pressure.


   Discussion Top


CS is characterized as a rare genetic disorder which is autosomal dominant in transmission with variable phenotypic expression and complete penetrance. [1],[2] The mutation in the genes that codify receptor two of the fibroblast growth factor 2, which is mapped to chromosome locus 10q25-10q26 is responsible for the deformities observed. [3],[4] Extraoral manifestations includes a high and large forehead, with convexity in the region of the anterior fontanelle, flattening of the occipital region and maxillary hypoplasia which are responsible for appearance of the patient. Intraoral features includes class III occlusion and maxillary dental arch in V shape with spaced teeth congenital cleft in the palate. [5] The nose shows a "parrot beak" appearance due to the frontal shortening of the dorsum of nose. In the present case, similar extraoral as well as intraoral features were seen [Figure 1] and [Figure 2].

Other clinical manifestations include acoustic meatus atresia and malformations of the middle ear leading to conductive hearing loss. [5] The obstruction of the upper respiratory passages lead to acute respiratory anxiety, dyspnea, mainly when connected to upper maxillary hypoplasia. Ocular abnormalities are shallow orbits, bilateral ocular proptosis, hypertelorism, divergence strabismus, optical atrophy, conjunctivitis or exposure keratoconjunctivitis and loss of visual accuracy. [5] In our case hearing and respiratory function were normal and ocular abnormalilty observed were hypertelorism and divergent strabismus.

Imaging studies such as lateral skull radiograph which shows copper beaten appearance and computed tomography demonstrate craniofacial deformities, moderate brachycephalism, cerebriform impressions, small paranasal sinuses and the maxillary hypoplasia with shallow orbits. [1],[6] Cervical region radiographs show butterfly-shaped vertebra and fusion of the posterior bodies and C2-C3 and C5-C6 are equally affected. [1],[6] The magnetic resonance is used to view corpus callosum agenesis and optical atrophy.

In the present case report, imaging modalities such as lateral radiograph showed copper beaten appearance and 3D CT showed brachycephalism, cereberiform impressions which is pathgnomonic of CS [Figure 3],[Figure 4] and [Figure 5].

Differential diagnosis is made with the syndromes of Apert, Pfeiffer, Carpenter and Saethre-Chotzen syndrome. [7] Apert syndrome has features similar to those found in the CS except malformation of the hands and feet, with symmetric syndactylus generally the second, third and fourth digits. Pfieffer syndrome shows craniosynostosis, broad thumb and great toes, cardiovascular malformation and soft - tissue syndactyly of hand and feet. Carpenter syndrome also shows syndactyly, heart defects and craniosynostosis but mental retardation is seen in nearly all cases. Saethre-Chotzen syndrome is a mild form of congenital bone deformation with craniosynostosis, low set frontal hair line, deviated nasal septum, variable facial symmetry and there is less proptosis and hypertelorism versus CS. [7]

Multi - disciplinary and multistage surgeries are recommended for management of CS. In reference to present case, cleft palate surgery was posted and neurosurgeon advice was sought for craniosynostosis.


   Conclusion Top


It is important that dental professionals be able to diagnose craniofacial abnormalities so that families can be properly counseled and referred to appropriate craniofacial centre. Early diagnosis and management is crucial in such cases to prevent complications like mental retardation, decrease in visual acuity and poor cosmetic appearance.

 
   References Top

1.Taylor HO, Ramakrishnan A, Forrest CR. Advances in the Diagnosis of Craniosynostosis. Eur Paediatr 2010;4:66-71.  Back to cited text no. 1
    
2.Maloth S, Rema J, Padmashree S, Shilpa YJ, Ramadoss T, Kalladka M, et al. Diagnosis of Crouzon's syndrome. Hong Kong Dent J 2010;7:95-100.  Back to cited text no. 2
    
3.Eswarakumar VP, Horowitz MC, Locklin R, Morris-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;101:12555-60.  Back to cited text no. 3
    
4.Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994;8:98-103.  Back to cited text no. 4
    
5.Bowling EL, Burstein FD. Crouzon syndrome. Optometry 2006;77:217-22.  Back to cited text no. 5
    
6.Silva DL, Neto FX, Carneiro SG, Palheta AC, Monteiro M, Cunha SC, et al. Crouzon's Syndrome: Literature Review. Int Arch Otorhinolaryngol 2008;12:436-41.  Back to cited text no. 6
    
7.Gorlin RJ, Cohen MM, Levin LS. In: Gorlin RJ, Cohen MM, Levin LS, editors. Syndromes of Head and Neck. 3 rd ed., USA. Oxford University Press; 1990. p. 516-26.  Back to cited text no. 7
    


    Figures

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



 

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    Abstract
   Introduction
   Case Report
   Discussion
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    References
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