Cleidocranial dysplasia: Two unique cases

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1 Interntionl Journl of Medicl nd Dentl Cse Reports (2015), Article ID , 5 Pges CASE REPORT Cleidocrnil dysplsi: Two unique cses T. Chudhri Nrendr 1, A. Amle Kvit 2, K. Sethy Sroj 3 1 Deprtment of Orl Pthology nd Microiology, Government Dentl College nd Hospitl, Mumi, Indi, 2 Deprtment of Orl Medicine, Dignosis nd Rdiology, Government Dentl College nd Hospitl, Mumi, Indi, 3 Deprtment of Orl nd Mxillofcil Surgery, Government Dentl College nd Hospitl, Mumi, Indi Correspondence Dr. T. Chudhri Nrendr, Nirmn Prk Phse 3, A-6, Room No - 4, Sntoshi Mt Rod, Klyn West Phone: Emil: nren.njoi@gmil.com Received 02 August 2015; Accepted 10 Septemer 2015 doi: /ins.ijmdcr.30 How to cite the rticle: Nrendr TC, Kvit AA, Sroj KS. Cleidocrnil dysplsi: Two unique cses. Int J Med Dent Cse Rep 2015;1:1-5. Astrct Cleidocrnil dysplsi (CCD) is rre utosoml dominnt disorder ffecting skeletl nd dentl tissues. The dignosis of this syndrome is usully delyed, ut the prognosis is good if ppropritely mnged. The involvement of fcil ones, ltered eruption ptterns nd presence of multiple supernumerry teeth wrrnts clinicl concern for dentl helth professionls. Due to complex nture of CCD multidisciplinry pproch is required for tretment. Erly dignosis is of utmost importnt to ensure etter prognosis. We present two cses of CCD nd rief review. Keywords: Autosoml, cleidocrnil dysplsi, multidisciplinry, skeletl, supernumerry Introduction Cleidocrnil dysplsi (CCD) is usully inherited s n utosoml dominnt trit, [1] nonetheless round 35% of cses show no pprent inheritnce which my e due to spontneous muttions. [2] Even though CCD ws fi rst ccurtely descried y Scheuthuer, clviculr defects were reported in the literture from [3] CCD is rre syndrome with prevlence of 0.5/100,000 live irths. [4] The chrcteristic fetures of CCD re clviculr plsi, excessive development of the trnsverse dimeter of the crnium, delyed closure of the fontnells, nd disorders of the jws nd dentition, [5] which led to introduction of term dysostose cléidocrânienne héréditire (cleidocrnil dysostosis) y Mrie nd Sinton in [3] Since, CCD shows generlized dysplsi of ones nd teeth dysplsi is more pproprite insted of dysostosis. [6] Prominent suproritl nd infroritl ridges, exoritism due to defi cient oritl volume nd frontl one thickening results in the chrcteristic skull ppernce in CCD known s Arnold hed. [2] This ppernce is similr to descendnts of Chinese fmily nmed Arnold. Erlier it ws elieved tht CCD ffects only ones of memrnous origin, ut recent investigtions suggest tht it is generlized skeletl dysplsi ffecting the entire skeleton long with the clvicles nd skull. [3] CCD often shows complictions in skeletl, orthopedic, respirtory, dentl, uditory, nd pregnncy. [7] It hs striking clinicl nd rdiogrphic fetures ut often is dignosed lte. Erly identifi ction of this syndrome helps in providing etter clinicl cre. We discuss here two cse reports of CCD. Cse Report Cse 1 A 25-yer-old mle presented with chief complint of crious nd missing teeth in upper nd lower jws. Due to missing teeth, he hd diffi culty in mstiction nd speech. The ptient hd no relevnt fmily nd pst medicl history nd visited dentist few dys ck for removl of moile nterior teeth. On extr orl exmintion, the ptient showed short stture for his ge. Hed ws lrge with frontl nd prietl ossing. The shoulders were nrrow with mrked drooping, ut there ws no unusul moility [Figure 1]. Nose ws devited to left side. The se of the nose ws widened with the depressed nsl ridge. Mild oculr hypertelorism nd slight mndiulr prognthism were lso seen [Figure 1]. Orl cvity exmintion reveled edentulous ridge in mndiulr nterior region. This ws due to the extrction of moile primry lower incisors. Both the rches hd mny over-retined deciduous teeth, nd severl permnent teeth were missing. The teeth present showed mny normlities such s rottion, cries, nd gingivl recession. Few root pieces were lso present. Spcing ws present etween the teeth, nd orl hygiene cre ws not proper [Figure 1c]. Orthopntomogrm (OPG) showed over-retined deciduous teeth nd numerous impcted permnent nd supernumerry teeth crowded in oth the rches. Twenty-seven impcted teeth were identifi ed inside the one. Mndiulr rmus ws nrrow nd coronoid process ws thin nd pointed on oth right nd left sides. The ngle nd zygomtic rches were 1

2 Nrendr, et l. Cleidocrnil dysplsi: Two unique cses round [Figure 2]. Posteronterior (PA) Cldwell view reveled open midsgittl suture, wormin ones, prietl ossing nd nsl septum devited towrd left side. Furthermore, hypoplsi of frontl sinuses ws noted [Figure 2]. Lterl cephlogrm showed frontl, mxillry nd sphenoidl sinus hypoplsi, frontl ossing nd mild mndiulr prognthism [Figure 3]. Chest X-ry showed ilterl mild clviculr hypoplsi [Figure 3]. The dignosis of CCD ws mde y identifi ction of the oth skeletl nd dentl components of this syndrome. Mngement ws minly towrd rehilittion of occlusion y restoring the crious permnent teeth, removl of moile deciduous teeth. Totl removl of impcted teeth ws not possile from oth the jws. Orthodontic tretment ws dvised ws n extrusion of impcted permnent teeth situted in fvorle position. The ptient discontinued the tretment nd did not come for followup ppointments. Cse 2 A 21-yer-old femle ptient ws reported to our outptient deprtment with chief complint of missing teeth. As permnent teeth were not erupting, the ptient visited the privte dentist. Susequently, the over retined deciduous teeth were removed from ll four qudrnts out 1.5 yers ck. Extr orl exmintion reveled tht stture of the ptient ws short. Hed ppered lrge with frontl nd prietl ossing, depressed nsl ridge, hypertelorism, slight mndiulr prognthism. The forehed showed mrked depression in the centrl re. Excessive moility of shoulder ws noted [Figure 4 nd ]. Introrl exmintion showed multiple missing permnent teeth, over-retined right deciduous mndiulr cnine nd prtilly erupted nterior mxillry teeth [Figure 4c]. OPG showed multiple impcted permnent teeth in mxillry nterior nd mndiulr left posterior region. The teeth 36, 37, 46, 47 were missing. Gonil ngle ws lost from oth sides [Figure 5]. PA skull showed lrge crnium s compred to fce ecuse of prietl ossing. Open sgittl suture nd fontnelle with wormin ones were seen. Mndile ppered rod s compred to the mxill. Lrge, open multiple fontnelles were present [Figure 5]. Lterl cephlogrm showed frontl ossing Figure 3: () Lterl cephlogrm displyed hypoplsi of ll prnsl sinuses, mndiulr prognthism, nd open fontnelle, () posteronterior chest showed ilterl mild clviculr hypoplsi Figure 1: ( nd ) Extr orl view: Short stture, depressed nsl ridge, hypertelorism, (c) Intr orl view: Multiple over retined deciduous teeth c Figure 2: () Orthopntomogrm: Multiple impcted supernumerry teeth, rounded gonil ngle, nd nrrow rmus. () posteronterior skull showed open sgittl suture, wormin ones, prietl ossing, plsi of the frontl sinus, devited nsl septum nd wide mndile c Figure 4: ( nd ) Extr orl showed prietl ossing, depressed nsl ridge, mndiulr prognthism, (c) intr orl: Multiple missing teeth prtilly erupted mxillry nterior incisors 2

3 Cleidocrnil dysplsi: Two unique cses Nrendr, et l. with norml frontl sinus, wheres mxillry nd sphenoid sinuses were hypoplstic. Mndiulr prognthism ws seen with prominent chin nd rounded gonil ngle [Figure 6]. PA chest showed ilterl hypoplsi of clviculr one nd ell shped chest [Figure 6]. The overll fi ndings were suggestive of CCD. Mngement ws minly towrd rehilittion of occlusion y restortion of crious teeth nd replcement of missing teeth. Discussion CCD ws fi rst descried in 1765 y Mrtin [4] nd since then it is recognized s Mrie nd Sinton disese, muttionl dysostosis, nd cleidocrnil dysostosis. [8] There is no sex or ethnic group predilection. [9] The genetic studies demonstrted microdeletion of chromosome nd 6p21, t (6;18) (p12; q24) trnsloction nd pericentric inversion of the chromosome. [6,10] The gene ffected is elieved to e core inding fctor ctivity 1 (CBFA1). CBFA1 is crucil for differentition of stem cells into osteolsts, so ny defect in this gene will led to defect in the memrneous nd endochondrl one formtion. [11] Furthermore, mny cses show heterozygous muttions in the runt-relted trnscription fctor 2 gene (RUNX2), which plys n importnt role in the Figure 5: () Orthopntomogrm showed multiple impcted permnent teeth, loss of gonil ngle, () posteronterior skull showed prietl ossing, open frontl fontnel, wormin ones in sgittl suture region, hypoplsi of mxillry sinuses, rod mndile. Figure 6: () Lterl cephlogrm displyed hypoplsi of mxillry nd sphenoid sinuses, mndiulr prognthism, () posteronterior chest showed ilterl clviculr hypoplsi nd ell-shped chest regultion of one formtion. [12] The dentl normlities seen in CCD my e due to defect in CBFA1, which regultes gene expression of dentl epithelium mesenchyml cells. The delyed eruption nd multiple impcted teeth re due to reduced numer of osteoclsts. [13] Clinicl fetures The skeletl mnifesttions include short stture, [2] rchycephly, frontl nd prietl ossing, open sutures, delyed closure of fontnelles, soft skull in infncy, depressed nsl ridge, nd hypertelorism. [3] Delyed ossifi ction of the crnil sutures nd fontnelles, results in rised intrcrnil pressure. This cuses expnsion of the crnil vult leding to ossing of the frontl, prietl, nd occipitl ones. [14] Brchycephly nd hypertelorism is mnifested due to delyed closure of nterior fontnel nd metopic sutures nd reduced growth of dysplstic skull se. [8] The excessive moility of the shoulder girdle is seen s clvicles re underdeveloped to vrying degrees nd re completely sent in out 10% of cses. The dentl normlities seen in CCD re high, nrrow rched plte, cleft plte, prolonged retention of the deciduous teeth nd delyed eruption of the succedneous teeth. Multiple impcted teeth re seen which my e due to lck of cellulr cementum or delyed tooth formtion nd mturtion. Numerous unerupted supernumerry teeth without ny pprent cuse re seen frequently on rdiogrphic exmintion, the more common in the mndiulr premolr nd incisor res. Skeletl Clss III tendency/mndiulr prognthism seen in CCD cn e ttriuted to the unchecked growth of mndile due to the hypoplstic mxill nd upwrd nd forwrd mndiulr rottion. [10,14] The digits my e ffected with nomlies such s rchydctyly, tpering of fi ngers, nil dysplsi/hypoplsi, short, rod thums nd clinodctyly of the 5 th fi nger. [3] Other rre skeletl normlities like spin ifi d, delyed closure of the puic symphysis, nd mlformtion of the metcrpls nd phlnges my e present. [2] Our oth cses showed chrcteristic fetures like rchycephly, frontl nd prietl ossing, hypertelorism nd mndiulr prognthism ut the moility of shoulder girdle ws within norml rnge in Cse 1 nd excessive moility ws seen in Cse 2. Over-retined deciduous teeth were seen in Cse 1 wheres Cse 2 hd history of extrction of deciduous teeth; hence, the edentulous ridge ws seen in the posterior region of oth the jws. Furthermore, mndiulr 1 st nd 2 nd molrs were missing in Cse 2, which is rre in the cse of CCD. Rdiogrphic fetures The chrcteristic rdiologicl fetures of CCD re rod sutures, lrge fontnelles persisting into dulthood, numerous wormin ones, nd multiple unerupted supernumerry teeth. [8] Skull rdiogrphs show rchycephly, open skull sutures, smll sphenoid ones, nd clvril thickening over the occiput. [6] Wormin ones re lso seen in the coronl 3

4 Nrendr, et l. Cleidocrnil dysplsi: Two unique cses nd lmdoid regions ecuse of the norml ossifi ction pttern. [14] Chest rdiogrphy shows nrrow thorx, olique ris nd, [6] hypoplstic, plstic, or discontinuous clvicles. [3] Bell shped smll thorcic cge hving short ris is lso seen. [8] OPG shows nrrow scending rmus, slender nd pointed coronoid process, thin zygomtic rch with severe downwrd tilt, smll or sent mxillry sinuses, corse trecultion of the mndile, nd incresed density of the lveolr crestl one over unerupted teeth. The cellulr cementum is completely sent, nd cellulr cementum is incresed on the roots of the ffected teeth. [6] Underdeveloped prnsl sinuses re lso noted. Verterl defects with scoliosis, kyphosis or lordosis, pelvic ony normlities nd nomlies of phlngel, trsl, mettrsl, crpl nd metcrpl ones re lso present. [8] A wide puic symphysel spce with chef s ht ppernce of the femorl hed is lso seen. [6] Both the cses hd lrge fontnelles persisting into dulthood, numerous wormin ones, rchycephly, open skull sutures, loss of gonil ngle, zygomtic rch with downwrd tilt nd hypoplsi of mxillry sinuses. Multiple impcted supernumerry teeth were seen in Cse 1, wheres Cse 2 showed impcted permnent teeth, ut there ws only one supernumerry tooth, nd mndiulr 1 st nd 2 nd molrs were missing. These fi ndings differ from other cses reported in the literture. Chest rdiogrphy reveled norml clvicle in Cse 1 wheres Cse 2 showed hypoplstic clvicle cusing norml shoulder moility. Differentil dignosis The lesions considered while dignosis of CCD is osteogenesis imperfect (frequent frctures), pycnodysostosis (skeletl density), nd congenitl hypothyroidism (distured thyroid metolism). Grdner syndrome, Hllermn-Streiff syndrome (nrrow fce, hypotrichosis, mi- crophthlmi), [15] hypohidrotic ectoderml dysplsi (hypohidrosis, nomlous dentition, onychodysplsi, nd hypotrichosis), focl derml hypoplsi (reltive focl sence of the dermis, skin trophy, streky pigmenttion, multiple mucosl ppilloms, nd deformity of the extremities), pert syndrome (crniosynostosis, crniofcil normlities nd symmetricl syndctly of the hnds nd feet), nd crniofcil dysostosis (premture crniosynostosis with other normlities). [6] Complictions CCD my show complictions such s pes plnus, genu velgum, shoulder nd hip disloction, recurrent sinus nd er infections, upper irwy complictions, hering loss, dentl cries, osteomyelitis of jws, nd respirtory distress in infnts. [16] Mngement There is no specifi c tretment for CCD. The ony normlities cuse little prolem, so no tretment is required for the skull nd clviculr deformities, ut dentl prolems re most importnt complictions nd represent mjor cuse of functionl nd esthetic moridity. Tretment of clediocrnil dysplsi is minly focused on reducing the dentofcil deformity nd correcting the mlocclusion. A multidisciplinry pproch consisting of pedodontist, n orthodontist, nd n orl surgeon is required. Genetic counseling is recommended for people with fmily history of CCD. Tretment usully comprises of restortion or removl of retined crious primry teeth, surgicl removl of supernumerry teeth, surgicl exposure of permnent teeth, nd orthodontic tretment for mllignment nd pplinces for growth modultion of jws. Orthognthic surgery is required in severe skeletl Clss III mlocclusion cses or if sumucosl cleft is present. Guided eruption y orthodontic mens is unsuccessful due to lck of cellulr cementum. The prognosis of ptients is usully good with norml life expectncy. If proper tretment is not provided, the retined deciduous dentition egins to rpidly deteriorte in erly dulthood, leding to premture ged fcil ppernce. Followup rdiogrphs should e mde to check for the development of new supernumerry teeth which my rise in the erly to midteens. [2,10] Conclusion We presented two cses nd discussed severl pthognomic fetures of CCD. Cse 1 showed predominnt dentl fetures, wheres Cse 2 hd skeletl normlities. Furthermore, few teeth were congenitlly missing in Cse 2 which is rre in CCD. CCD cn e esily recognized if dentl helth cre professionls re wre of its presenttion. Erly dignosis nd prompt mngement re importnt to correct esthetic nd functionl prolems nd mintin the psychologicl nd physiologicl welleing of the ptient. References 1. Wng S, Zhng S, Wng Y, Chen Y, Zhou L. Cleidocrnil dysplsi syndrome: Clinicl chrcteristics nd muttion study of Chinese fmily. Int J Clin Exp Med 2013;6: Jykumr N, Mohn S, Vimlrj R, Chhg S. Clinicl spectrum of cleidocrnil dysplsi. 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