OBJECTIVE: To present and discuss a case of a rare disease in a 35 year old otherwise healthy maleIndian in origin reported to the Department of Oral Medicine and Radiology of the Dental College andResearch Institute, Bangalore, India. DISCUSSION: The cleidocranial dysplasia is a rare disease whichcan occur either spontaneously (40%) or by an autosomal dominant inheritance. The dentists are, mostof the times, the first professionals who patients look for to solve their problem, since there is a delayin the eruption and /or absence of permanent teeth. In the present case multiple missing teeth was thereason for patient’s visit to odontologist. CONCLUSION: An early diagnosis allows proper orientationfor the treatment, offering a better life quality for the patient

Khan, Mubeen

Puja, Rai

Portuguese

Portal de Peritódicos da PUCPR (Pontifícia Universidade Católica do Paraná)

Rev Clín Pesq Odontol. 2010 maio/ago;6(2):179-84ISSN 1807-5274Rev. Clín. Pesq. Odontol., Curitiba, v. 6, n. 2, p. 179-184, maio/ago. 2010Licenciado sob uma Licença Creative Commons[T]CleidoCranial dysplasia with spina bifida: case report[I]Displasia cleido-craniana com espinha bífida: relato de caso[A]Mubeen Khan[a], rai puja[b][a] Professor and head of  Department of  Oral Medicine and Radiology Government Dental College and Research Institute, Bangalore - India.[b] Postgraduate student, Department of  Oral Medicine and Radiology, Government Dental College and Research Institute, Bangalore - India, e-mail: pujas.rai@gmail.com  [R]abstractoBJeCtiVe: To present and discuss a case of  a rare disease in a 35 year old otherwise healthy male Indian in origin reported to the Department of  Oral Medicine and Radiology of  the Dental College and Research Institute, Bangalore, India. disCUssion: The cleidocranial dysplasia is a rare disease which can occur either spontaneously (40%) or by an autosomal dominant inheritance. The dentists are, most of  the times, the first professionals who patients look for to solve their problem, since there is a delay in the eruption and /or absence of  permanent teeth. In the present case multiple missing teeth was the reason for patient’s visit to odontologist. ConClUsion: An early diagnosis allows proper orientation for the treatment, offering a better life quality for the patient.[P]Keywords: Cleidocranial dysplasia. Aplastic clavicles. Delayed eruption. Supernumerary teeth. Spina bifida.[B]ResumoOBJETIVO: Apresentar e discutir um caso de doença rara em paciente masculino, de 35 anos de idade, sadio, de modo geral, de origem indiana, que foi encaminhado ao Departamento de Medicina Bucal e Radiologia da Escola de Odontologia e Instituto de Pesquisa, Bangalore, Índia. DISCUSSÃO: A displasia cleidocraniana é uma doença rara que pode ocorrer espontaneamente (40%) ou por herança autossômica dominante. O cirurgião-dentista é, na maioria das vezes, o primeiro profissional que o paciente procura para solução de seu problema, uma vez que há demora na Rev Clín Pesq Odontol. 2010 maio/ago;6(2):179-84Khan M, Puja R.180impaction or delay in eruption of  permanent teeth, presence of  a varying number of  supernumerary teeth, an increase in the osseous density of  some regions as a result of  an abnormal remodelling of  the bone and absence or less quantity of  the cel-lular cementum in the roots of  the permanent/deciduous teeth (8).Dental abnormalities are sometimes the sole clinical signs of  the syndrome. Due to the wide variability and subclinical presentation in many patients, diagnosis may be difficult. Since early diagnosis of  CCD is essential for initiating the appropriate treatment approach, physicians should be aware of  the characteristic features of  this syn-drome. A detailed review regarding the entire clinical and radiographic picture does not exist. This paper aims at discussing clinical and radiographic features of  cleidocranial dysplasia along with a rare finding of  spina bifida.Case reportThirty five year old otherwise healthy male Indian in origin reported to the Department of  Oral Medicine and Radiology, with a chief  complaint of  congenitally missing teeth and desired there replacement. This was the patient’s first visit to health care professionals. Upon general examina-tion, he was well oriented, of  average height and normal gait. The skull was brachycephalic with frontal, parietal and occipital bossing. Patient had hypertelorism, with the bridge of  the nose appearing wide and flat.The midface was depressed because of  underdeveloped maxilla, leading to mandibular pseudoprognathism giving patient a concave facial profile. Bilateral zygomatic bones were hypoplastic leading to flattening of  checks. Patient also had broad neck, sloping and hyper mobility of  shoulders with tendency to approximate them anteriorly close to mid line (Figure 1). introdUCtionThe cleidocranial dysplasia (CCD), also known as Marie and Sainton disease, Scheuthauer Marie-Sainton syndrome and mutational dysos-tosis, is a rare inherited skeletal dysplasia with incidence of  1:100,0000 (1). Cleidocranial dys-plasia is a dominant, inherited autosomal bone disorder with a wide range of  expressivities, primarily affecting bones undergoing intramem-branous ossification (2). The CCD gene has been mapped to chromosome 6 p21 within a region containing the CBFA1 gene, a member of  the Runt family of  transcription factors (3), which controls differentiation of  precursor cells into osteoblasts. It is thus essential for membranous as well as endochondral bone formation, which may be related to delayed ossification of  the skull, teeth, pelvis and extremities in CCD (4, 5). The genotype–phenotype correlations in mutational studies of  the RUNX2 domain show a variable clinical spectrum, suggesting that skeletal growth and dental development could be related to the type of  changes in the RUNX2 activity (6).Cleidocranial dysplasia is characterised by disturbances in the growth of  bones involving cranial vault, clavicles, maxilla, nasal bones, lacrimal bone, zygomatic bone, vertebrae and the pelvis (7). Spina bifida, however, remains as rare find-ing in this syndrome with very few reports in the literature. Patients with CCD usually present with short stature, frontal, parietal and occipital bossing with underdeveloped paranasal sinus. Hypertelorism with the bridge of  the nose appearing wide and flat, underdeveloped  maxilla with relative mandibular prognathism are common. The ability to approxi-mate the shoulders anteriorly is related to clavicular hypoplasia/ absence and is the classic diagnostic sign of  the disorder (7). Dental problems present the most significant manifestation of  CCD; they usu-ally include retention of  multiple deciduous teeth, erupção e/ou ausências de dentes permanentes. No presente caso, múltiplos dentes ausentes foram a razão para o paciente visitar o dentista. CONCLUSÃO: O diagnóstico precoce permite a orientação adequada para o tratamento, visando melhor qualidade de vida ao paciente.[K]Palavras-chave: Displasia cleido-craniana. Clavículas aplásticas. Erupção retardada. Dentes supranumerários. Spina bifida.  Rev Clín Pesq Odontol. 2010 maio/ago;6(2):179-84Cleidocranial dysplasia with spina bifida 181revealed multiple unerupted permanent teeth and impacted supernumerary teeth in both the upper and lower jaws. The mandibular notch showed excessive deepening causing elongated appearance of  coronoid process. The gonial angle appeared rounded with lack of  definition of  the neck of  condyle (Figure 3).Intra oral examination revealed presence of  the following teeth:with clinically missingwhich were impacted. Two supernumerary teeth were present in maxilla and mandible respectively. A deep high arched narrow palate was present (Figure 2).The oral hygiene was generally poor. The oral mucosa and tongue were otherwise normal. Family history revealed similar signs in the mother; his spouse and offspring were normal. Based on familiar history and clinical features, a provisional diagnosis of  CCD was given. A differential diag-nosis of  Noonan syndrome, Turner’s syndrome, rickets, osteogenesis imperfecta, and Gardner´s syn-drome was given. The patient was subjected to radiographic examination. Orthopantomogram Figure 1 - Patient’s frontal viewFigure 2 - Intra oral viewFigure 3 - OrthopantomogramThe postero-anterior view and laleral skull view showed a brachycephalic skull, notice-able frontal, parietal and occipital eminences. The anterior and posterior fontanelles were widely opened with the suture shadows excessively prominent. The maxilla and zygomatic bones were relatively small with underdeveloped frontal and maxillary air sinus (Figures 4, 5).X-ray of  the chest showed absence of  both clavicles and narrowing of  the thoracic cage. Vertical radiolucencies noted in the spinous process of  C7 to T3 vertebrae suggestive of  spina bifida (Figure 6).Rev Clín Pesq Odontol. 2010 maio/ago;6(2):179-84Khan M, Puja R.182On the basis of  the familiar history, clinical features and radiographic findings, a final diagnosis of  cleidocranial dysplasia with spina bifida at the level of  C7 to T3 vertebrae was given.disCUssionIn 1760, Meckel recorded an infant born without clavicles (9). Marie and Sainton  described four cases in detail and gave the condition its name of  “hereditary cleidocranial dysostosis” (10). The terminology has changed from dysostosis – meaning abnormal bone formation – to dysplasia – meaning abnormal tissue development, thereby reflecting the more generalized nature of  the disease process (11). There is a generalized failure of  midline ossification resulting in patent fontanelles, metopic suture, worm-ian bones, nasal deformity, non-union of  mandibular symphysis, high arched palate, cleft palate, hypopla-sia or absence of  clavicles, spina bifida and delayed closure of  pubic symphysis (12). Depression of  the sagittal suture has been described as the “hot cross bun effect”. Calvarial thickening may be present affecting the squamous portion of  the temporal bone or the occipital bone. The most characteristic and pathognomic skeletal feature is that one or both clavicles are frequently partially or in 10% cases completely absent. Clavicle being first bone to be ossified in the 6th week of  fetal life is most often affected (13). Clavicular deformity along with the dysplastic muscle attachments give rise to elongated Figure 4 - Frontal skull viewFigure 6 - Radiolucencies in the spinous process of  C7 to T3 (spina bifida)Figure 5 - Lateral skull viewRev Clín Pesq Odontol. 2010 maio/ago;6(2):179-84Cleidocranial dysplasia with spina bifida 183Consent ForMThe authors declared that the patient signed a consent form for publication of  this case and that the publication was approved by the Ethical Comittee of  the Institution.reFerenCes1. Golan I, Baumert U, Hrala BP, Müssig D. Dentomaxillofacial variability of  cleidocranial dysplasia: clinicoradiological presentation and systematic review. Dentomaxillofac Radiol. 2003;32(6):347-54.2. Kanda M, Kabe S, Kanki T, Sato J, Hasegawa Y. Cleidocranial dysplasia: a case report. No Shinkei Geka. 1997;25(12):1109-13.3. Golan I, Baumert U, Wagener H, Dauwerse J, Preising M, Lorenz B, et al. Atypical expression of  cleidocra-nial dysplasia: clinical and molecular-genetic analysis. Orthod Craniofac Res. 2002;5(4):243-9.4. Furuuchi T, Kochi S, Sasano T, Iikubo M, Komai S, Igari K. Morphologic characteristics of  masseter muscle in cleidocranial dysplasia: A report of  3 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005;99(2):185-90.5. Machuca-Tzili L, Monroy-Jaramillo N, Gonzálezdel Angel A, Kofman-Alfaro S. New mutations in the CBFA1 gene in the two Mexican patients with cleidocranial dysplasia. Clin Genet. 2002;61(5): 349-53.6. Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, et al. Functional analysis of  RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel geno-type-phenotype correlations. Am J Hum Genet. 2002;71(4):724-38.7. Daskalogiannakis J, Piedade L, Lindholm TC, Sándor GKB, Carmichael RP. Cleidocranial Dysplasia: 2 Generations of  Management. J Can Dent Assoc. 2006;72(4):337-42.8. Alves N, Oliveira R. Cleidocranial dysplasia: a case report. Int J Morphol. 2008;26(4):1065-8.9. Cole WR, Levin S. Cleidocranial dysostosis. Brit J Radiol. 1951;24(286):549-55.neck; narrowness, drooping and hypermobility of  shoulders with tendency to approximate shoulders anteriorly. All these features were observed in the present case. Reported vertebral abnormalities are scoliosis, kyphosis, lordosis and vertebral synostosis. Hearing loss and complications during child birth and dislocation of  joints can be present. Although psychosocial disorders associated with abnormal facial and body features may occur, patients have normal intelligence, with an overall good prognosis and normal life expectancy (13). Regarding the manifestations of  den-tistryinterest it is important to mention that these patients show an arcate, narrow and deep palate. The maxilla can be underdeveloped and shorter than normal in relation to the mandible, resulting in a pseudo mandibular prognathism. Underdeveloped zygomatic and lacrimal bones can also be present. Hypoplastic paranasal sinuses have been reported. Another important finding is the presence of  super-numerary teeth that forms as a result of  activation of  remnants of  the dental lamina left unresorbed during odontogenesis. Crowding of  the dental arches caused by these supernumerary teeth may play a role in arresting the eruption of  permanent teeth or forc-ing them into ectopic locations. The dental eruption is retarded and an absence of  root resorption in the deciduous teeth, hypodontia and dentigerous cysts can be observed. It has been reported that masseter muscle size, bite-force magnitude, and craniofacial bone shape and structure are mutually related hence a low bite force & less thick masseter muscle has been reported in CCD patients (14).Treatment of  the dental problems associ-ated with cleidocranial dysplasia may be difficult and requires an interdisciplinary approach. Therapeutic options include extraction of  all teeth followed by the fabrication of  dentures or a crown sleeve coping overdenture, autotransplantation (15) of  selected impacted teeth followed by prosthetic restoration or removal of  primary and supernumerary teeth followed by exposure of  permanent teeth that are subsequently extruded orthodontically. The use of  implants in a patient with cleidocranial dysplasia to support a removable overdenture has been documented (16).Early diagnosis of  CCD is essential for appropriate treatment approach based on interdis-ciplinary cooperation between the dentist at the right moment, offering a better quality of  life for the patient.Rev Clín Pesq Odontol. 2010 maio/ago;6(2):179-84Khan M, Puja R.18410. Marie P, Sainton P. Observation d’hydrocephailie hereditaire (pere et fils) par vice de development du crane et du cerveux. Bull Soc Med Hop Paris. 1897;14(10):706-12.11. Sillence DO, Ritchie HE, Selby PB. Animal model: skeletal anomalies in mice with cleiciocranial dyspla-sia. Am J Med Genet. 1987;27(1):75-85.12. Jensen B. Somatic development in cleidocranial dysostosis. Am J Med Genet. 1990;35(1):69-74.13. Nebgen D, Wood RS, Shapiro RD. Management of  a mandibular fracture in a patient with cleidocranial dysplasia. J Oral Maxillofac Surg. 1991;49(4):405-9.14. Hsu CW, Shiau YY, Chen CM, Chen KC, Liu HM. Measurement of  the size and orientation of  human masseter and medial pterygoidmuscles. Proc Natl Sci Counc Repub China B. 2001;25(1):45-9.15. Jensen BL, Kreiborg S. Dental treatment strategies in cleidocranial dysplasia. Br Dent J. 1992;172(6):243-7.16. Lombardas P, Toothaker RW. Bone grafting and osseointegrated implants in the treatment of  clei-docranial dysplasia. Compend Contin Educ Dent. 1997;18(5):509-14.Received: 01/11/2009Recebido: 11/01/2009Accepted: 03/03/2010Aceito: 03/03/2010

Cleidocranial dysplasia with spina bifida: case report

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Cleidocranial dysplasia with spina bifida: case report

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