IJCRI – International Journal of Case Reports and Images, Vol. 4 No. 5, May 201 3. ISSN – [0976-31 98]

IJCRI 201 3;4(5):255–259.www.ijcasereportsandimages.com

The dentist’s role in diagnosing craniofacial dysostosisAruna Kanaparthy, Rosaiah Kanaparthy, Sanjeev Tyagi, Yogesh Gupta

ABSTRACTIntroduction: The Crouzon syndrome is a rareclinical condition that affects the craniofacialskeleton development. It accounts for about4.8% of all the cases of craniosynostosis, and itis the most common syndrome presenting withcraniosynostoses. The Crouzon syndrome’searly diagnosis is critical to avoid cranialhypertension as well as visual disturbances andblindness. Children who have Crouzonsyndrome have a range of problems of variableseverity, from mild facial defects causing aprimarily cosmetic concern, to severe symptomsaffecting breathing, feeding, vision and braindevelopment. The dental profession should havesufficient knowledge of syndromes associatedwith dysmorphic facies to detect patients who

are unaware of their condition. Case Report: A23­year­old female patient presented to theclinic with multiple dental problems affectingmasticatory efficiency and esthetics. Onobservation, it was seen that she had manyfacial and dental deformities which weresuggestive of craniofacial dysostosis. The casewas diagnosed as Crouzon syndrome.Conclusion: This case report emphasizes therole of a dentist in diagnosing such conditionsand coordinating a multi­disciplinary team forcorrective measures.Keywords: Craniosynostoses, Crouzonsyndrome, Craniofacial dysostosis,Exophthalmia, Facial defects

*********Kanaparthy A, Kanaparthy R, Tyagi S, Gupta Y. Thedentist’s role in diagnosing craniofacial dysostosis.International Journal of Case Reports and Images2013;4(5):255–259.

*********doi:10.5348/ijcri­2013­05­307­CR­4

INTRODUCTIONCrouzon syndrome was originally described in 1912by a French neurologist. He described four essentialcharacteristics: exorbitism, retromaxillism,inframaxillism and paradoxic retrognathia. Theincidence of this syndrome appears to be approximatelyone in 25,000 in the general population. It is inheritedin an autosomal dominant pattern with variableexpression. The mutation in the genes that codify type 2fibroblast growth factor receptor (FGFR2), isresponsible for the deformities observed. However,about 50% new cases of Crouzon syndrome are not

CASE REPORT OPEN ACCESS

Aruna Kanaparthy1 , Rosaiah Kanaparthy2, Sanjeev Tyagi3,Yogesh Gupta4

Affi l iations: 1BDS, MDS, Reader, Dept of ConservativeDentistry & Endodontics. Peoples Dental Academy,Bhopal-462037, Madhya Pradesh, HIG-3, PDA Staffquarters, Peoples campus, Bhanpur, Bhopal; 2BDS, MDS,Professor & HOD. Dept of periodontics, Peoples DentalAcademy, Bhopal-462037, Madhya Pradesh, HIG-3, PDAStaff quarters, Peoples campus, Bhanpur, Bhopal; 3BDS,MDS, Professor & HOD Dept of Conservative Dentistry &Endodontics. Peoples Dental Academy, Bhopal-462037,Madhya Pradesh, HIG-11 , PDA Staff quarters, Peoplescampus, Bhanpur, Bhopal; 4BDS, MDS, Professor, Dept ofOrthodontics. RKDF Dental College & Hospital, Bhopal-462037, Madhya Pradesh, Peoples campus, Bhanpur,Bhopal.Corresponding Author: Dr. Rosaiah Kanaparthy, BDS,MDS, Professor & HOD. Dept of periodontics, PeoplesDental Academy, Bhopal-462037, Madhya Pradesh, HIG-3, PDA Staff quarters, Peoples campus, Bhanpur, Bhopal;Mob: +91 9893050554; Email : drrosaiah@gmail .com,medha98@gmail .com

Received: 07 August 201 2Accepted: 1 6 November 201 2Published: 01 May 201 3

Kanaparthy et al. 255

IJCRI – International Journal of Case Reports and Images, Vol. 4 No. 5, May 201 3. ISSN – [0976-31 98]

IJCRI 201 3;4(5):255–259.www.ijcasereportsandimages.com Kanaparthy et al. 256

inherited but result from new spontaneous mutations[1–6]. Crouzon syndrome is characterized bycraniosynostosis, maxillary hypoplasia, shallow orbitswith proptosis and bifid uvula. There are oftenintracranial abnormalities such as anomalous venousdrainage and hydrocephalus. A variety of othermanifestations of Crouzon syndrome exist, includingcalcification of the stylohyoid ligament in 50% patientsover four years old, cervical spine abnormalities in up to40% patients, elbow malformations (18%), minor handdeformities (10%), visceral anomalies (7%), variousmusculoskeletal deformities (7%), and skin lesions.Stylohyoid ligament calcification is also reported in38–88% cases of Apert syndrome. Cervical spine fusionanomalies affecting C2 to C5 are the most commonvertebral deformities in Crouzon syndrome. Limbanomalies in Crouzon syndrome are nonspecific.Acanthosis nigrans (hyperpigmented, hyperkeratoticlesions located on the neck and near joint flexures) hasalso been reported in Crouzon syndrome [7, 8].Treatment of craniofacial syndromes consists of a teamapproach in which each organ system is addressedindependently and problems are prioritized on the basisof relative urgency.

CASE REPORTA 23­year­old female patient reported to the dentalclinic with the chief complaint of pain in 36 since thepast two days and also expressed concern about herdifficulty in mastication and lack of dental and facialharmony. The patient’s sister also had similar problemsbut was not available for examination. Medical historywas insignificant and the patient appeared to havenormal mental faculties. On clinical examination, thepatient presented with the typical manifestations ofcraniofacial dysostosis. Brachycephalic head form,prominent forehead, concave profile, decreased malarprominence, ocular proptosis, hypoplastic midface,exophthalmos, hypertelorism, beak like nose(psittichornia), low set ears, excessive lower facialheight, maxillary retrognathism and a short upper lip.(Figures 1–3) Intraoral examination revealed Class IIIdental relationship, narrow, v­shaped maxilla, high­arched palate, bilateral posterior crossbite, spacingbetween upper anterior teeth, malocclusion, oligodontiawith missing 21, 32, 42, 35, 45, 47 teeth submerged,retained deciduous 85, tender to touch 36 with deepcaries. Patient gave history of recent extraction ofretained 75.Periodontal status was normal. The set of recordsobtained were study casts; posteroanterior skull, wristand panoramic radiographs; and photographs. The skullradiograph presented with a copper­beaten appearance.Wrist radiographs were normal. The panoramicradiograph showed retained deciduous submerged tooth85, tilted teeth, edentulous space in the third quadrant,missing 21, 32, 35, 42, 45, 47 along with periapicallesions in relation to 26 and 31. (Figures 4–6) Thediagnosis for 36 was irreversible pulpitis and

endodontic treatment was initiated. The patient wascounseled about the craniofacial condition she wassuffering from and treatment possibilities explained.She was referred to a plastic surgeon, an oral surgeon anophthalmologist, an orthodontist and a prosthodontistworking independently for further evaluation andaction.

DISCUSSIONCrouzon syndrome is inherited as a highly variableautosomal dominant condition, and approximately halfthe cases are familial. About 30 different mutations offibroblast growth factor receptor II have been identifiedin Crouzon syndrome. The Crouzon phenotype is highlyvariable and ranges from ocular proptosis and midfacehypoplasia with no craniosynostosis to a cloverleaf skulldeformity. Unlike most other craniofacial syndromescaused by fibroblast growth factor receptor mutationsthe limbs are typically unaffected [9]. The fibroblastgrowth factors are intrinsically related to theextracellular matrix formation. When the extracellularmatrix presents FGFR2’ mutation, it begins to secretecytokines both in autocrinous and paracrinous mannerand these may modify the matrix. In this disease, thepremature closure of cranial sutures and midfacialsutures give it a brachiocephalic configuration [10, 11].There is an underdeveloped midface with recededcheekbones. The patients appear exopthalmic due to theshallow orbits. They exhibit an Angle Class IIImalocclusion due to the midface deficiency, while themandibular growth potential is normal. Najal airwayobstruction may occur because of the underdevelopedmidface and high arched palate.The obstruction of the upper respiratory passagesdevelops following the septal diversion, abnormalities tothe center of the nose and epipharynx narrowing. It canlead to acute respiratory anxiety, polyapnea and even

Figure 1: Front view of patient showing Brachycephalic headform best seen from the superior end­on or lateral view. Thefeatures include prominent forehead, decreased malarprominence, ocular proptosis, hypoplastic midface andhypertelorism.

IJCRI – International Journal of Case Reports and Images, Vol. 4 No. 5, May 201 3. ISSN – [0976-31 98]

IJCRI 201 3;4(5):255–259.www.ijcasereportsandimages.com Kanaparthy et al. 257

sleep apnea, mainly when connected to upper maxillaryhypoplasia [12]. Other features commonly encounteredare visual disturbances due to eye muscle imbalance andfrequent hearing loss due to recurrent ear infections.

Figure 2: Lateral view shows concave profile, exophthalmos,low set ears, excessive lower facial height, beak­like nose(psittichornia), maxillary retrognathism and short upper lip.

Figure 3: Intraoral view shows missing 21, 32, 42, 35, 45 andretained 85 teeth.

Figure 4: Orthopentogram shows missing 21, 32, 42, 35, 45, 47teeth retained deciduous 85, spacing between upper anteriors,edentulous area in III quadrant, periapical radiolucencies inrelation to 26, 31 and deep caries in relation to tooth 36.

Figure 5: Dental cast shows narrow, v­shaped maxilla, high­arched palate, upper anterior spacing and missing tooth 21.

Figure 6: The skull radiograph showes a copper­beatenappearance.

IJCRI – International Journal of Case Reports and Images, Vol. 4 No. 5, May 201 3. ISSN – [0976-31 98]

IJCRI 201 3;4(5):255–259.www.ijcasereportsandimages.com Kanaparthy et al. 258

The conductive hearing loss is common due to themiddle ear deformities.There are several ocular abnormalities and the mostcommon are shallow orbits, bilateral ocular proptosis,hypertelorism, divergent strabismus, optical atrophy,conjunctivitis or exposure keratoconjunctivitis and anon­explained loss of visual accuracy. Rarelynystagmus, coloboma of the iris, anisocoria,microcornea or megalocornea, cataract, blue sclerae,glaucoma and globe luxation may occur. Blindnessfollowing optical atrophy by the intracranialhypertension may also occur Spectaclesplasty en blocrotation advancement of the periorbital bony skeletoncan be safely performed before skeletal maturity whichproduces a more normal anatomic position of theperiorbital soft tissues facilitating both function andaesthetics. Mental capacity is usually normal. An earlycraniosynostosis, evidenced by the existence ofintracranial hypertension, is present in 60% cases andfurnishes a reserved visual prognosis. The patients havehyperemia, and bilateral ocular irritation [12]. Diagnosis ofCrouzon syndrome can be made at birth by assessing thesigns and symptoms of the baby. Further analysis,including radiographs, magnetic resonance imaging (MRI)scans, genetic testing, X­rays and CT scans can be used toconfirm the diagnosis of Crouzon syndrome [7]. Treatmentof Crouzon syndrome is complex, since there are manyaspects of the syndrome which require management.Crouzon syndrome almost always requires surgery toenable the skull to expand properly and to align the jaws,along with other surgeries to repair face and ear defects.The entire middle portion of the face may be surgicallyextended forward by various surgical techniques. Oncetreated for the cranial vault symptoms, Crouzon patientsgenerally go on to live a normal lifespan [ 13 ].

CONCLUSIONCrouzon syndrome exhibit defects which resembleseveral other syndromes, a detailed case history, earlydiagnosis, exhaustive clinical, radiologic and geneticevaluation and comprehensive treatment plan ismandatory. This is better facilitated in a craniofacialcenter with multi­disciplinary health care staff who cancollectively monitor the patient’s progress.

*********Author ContributionsAruna Kanaparthy – Substantial contributions toconception and design, Acquisition of data, Analysis andinterpretation of data, Drafting the article, Revising itcritically for important intellectual content, Finalapproval of the version to be publishedRosaiah Kanaparthy – Acquisition of data, Drafting thearticle, Revising it critically for important intellectualcontent, Final approval of the version to be publishedSanjeev Tyagi – Acquisition of data, Drafting the article,Revising it critically for important intellectual content,Final approval of the version to be published

Yogesh Gupta – Acquisition of data, Drafting the article,Revising it critically for important intellectual content,Final approval of the version to be publishedGuarantorThe corresponding author is the guarantor ofsubmission.Conflict of InterestAuthors declare no conflict of interest.Copyright© Aruna Kanaparthy et al. 2013; This article isdistributed under the terms of Creative CommonsAttribution 3.0 License which permits unrestricted use,distribution and reproduction in any means providedthe original authors and original publisher are properlycredited. (Please see www.ijcasereportsandimages.com/copyright­policy.php for more information.)

REFERENCES1. Bowling EL, Burstein FD. Crouzon syndrome.Optometry 2006;77(5):217–2.2. Eswarakumar VP, Horowitz MC, Locklin R, Morriss­Kay GM, Lonai P. A gain­of­function mutation ofFgfr2c demonstrates the roles of this receptorvariant in osteogenesis. Proc Natural Acad Sci2004;101(34):12555–60.3. Hoefkens MF, Vermeij­Keers C, Vaandrager JM.Crouzon Syndrome: Phenotypic Signs andSymptoms of the Postnatally Expressed Subtype.Journal of Craniofac Surgery 2004;15(2):233–40.4. Rice DP. Clinical features of syndromiccraniosynostosis. Front Oral Biology2008;12:91–106.5. Cohen MM Jr, Kreiborg S. Birth prevalence studiesof the Crouzon syndrome: comparison of direct andindirect methods. Clin Genet 1992;41(1):12–5.6. Reardon W, Winter RM, Rutland P, Pulleyn LJ,Jones BM, Malcolm S. Mutations in the fibroblastgrowth factor receptor 2 gene cause Crouzonsyndrome. Nature Geneicst 1994;8(1):98–103.7. Lisa H Lowe, Timothy N Booth, Jeanne M Joglar,Nancy K Rollins. Midface anomalies in children.Radiographics 2000;20(4):907–22.8. Prowdman TW, Moore MH, Abbott AH, David DJ.Noncraniofacial manifestations of Crouzon's disease.Journal of Craniofacial Surgery 1994;5(4):218–2.9. Kreiborg S. Craniofacial growth in plagiocephaly andCrouzon syndrome. Scand Journal of PlasticReconstractive Surgery 1981;15(3):187–97.10. Carinci F, Pezzetti F, Locci P, et al. Apert andCrouzon Syndromes: Clinical Findings, Genes andExtracellular Matrix. Journal of Craniofacial Surgery2005;16(3):361–8.11. Ousterhout DK, Zlotolow IM. Aestheticimprovement of the forehead utilizingmethylmethacrylate onlay implants. Aesthetic PlastSurg 1990;14(4):281–5.12. Singer SL, Walpole I, Brogan WF, Goldblatt J.Dentofacial features of a family with Crouzonsyndrome. Case reports. Australian Dental Journal1997;42(1):11–7.

IJCRI – International Journal of Case Reports and Images, Vol. 4 No. 5, May 201 3. ISSN – [0976-31 98]

IJCRI 201 3;4(5):255–259.www.ijcasereportsandimages.com

13. Dorivaldo Lopes da Silva, Francisco Xavier PalhetaNeto, Stéphanie Gonçalves Carneiro, AngélicaCristina Pezzin Palheta, Marcela Monteiro, SarahCrestian Cunha, Cláudio Tobias Acatauassú Nunes.Crouzon's syndrome: literature review. InternationalArch Otorhinolaryngology 2008;12(3):436–1.

Kanaparthy et al. 259

Access full text article onother devices Access PDF of article onother devices