A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol.

Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition with generalized dysplasia of bone characterized by delayed closure of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities. We report two cases presenting with classical features of CCD because of its rarity.

Cleidocranial dysplasia (CCD) (cleido = collar bone + cranial = head + dysplasia = abnormal forming) also known as Marie and Sainton's disease or Scheuthauer Marie–Sainton syndrome or Mutational dystosis (Shafer et al., 1979) is a rare disease, which can occur either spontaneously or by an autosomal dominant mode of inheritance with high penetrance and variable expressivity. This condition is usually caused by a mutation of the RUNX2 (core binding factor alpha-1) gene located at chromosome 6p21. This gene encodes a protein, which normally guides osteoblastic differentiation and appropriate bone formation.[1] However, 40% of the cases of CCD occur spontaneously with no apparent genetic cause. It affects men and women with equal frequency and no predilection of genre or ethnic group. CCD is characterized by abnormalities of skull, dentition, jaws, and clavicle. CCD affects most prominently those bones derived from endochondral and intramembranous ossification such as the cranium and the clavicles. The diagnosis is based on the clinical and radiological findings.[1]

Case Reports

Case 1

An 18-year-old male from Vellore reported to the Department of Dental and Oral Surgery, Unit I, CMC, Vellore in the month of December, 2010 with the chief complaint of multiple missing teeth and he desired replacement of missing teeth. He also gave a history that his milk teeth are retained. The patient was accompanied with his mother who also had similar dental problems. He was diagnosed with rheumatic heart disease, mitral regurgitation, tricuspid regurgitation in January 2006, and under injection penidure prophylaxis (12 LU IM once in 3 weeks). He also underwent mitral valve replacement on October 12, 2009 at CMC Vellore and was on tablet warfarin 5 mg once daily and tablet ecosprin 150 mg once daily. His dental history revealed the presence of multiple carious deciduous teeth. He underwent extraction of deciduous teeth under infective endocarditis prophylaxis in September 2009 and also in May 2010 under IE prophylaxis and heparinization.

In the extra-oral, physical examination [Figures 1 and 2] we could notice the short height. He also had hypertelorism and frontal bossing. His profile was straight and had a depressed midface. When asked to move the shoulders he was capable of bringing closer the humeral heads, which characterized the hypermobility of the shoulders [Figure 3].

Figure 1

Frontal view

Figure 2

Profile view

Figure 3

Absence of clavicle

His intra-oral examination [Figure 4] revealed the presence of the following teeth in the oral cavity. Erupting 25, 45 and linguoverted 36 were noted.

Figure 4

Intra oral view

Distal caries in 74.

Further the orthopantomogram (OPG) [Figure 5] outlined the presence of total 53 teeth in both the jaws. Of these 31 impacted and supernumerary and 22 were seen in the oral cavity. Chest X-ray [Figure 6] shows the partial absence of clavicles.

Figure 5

Orthopantamogram (Patient 1)

Figure 6

Chest radiograph

According to the clinical and radiographical findings, the diagnosis was a CCD. The condition was explained to the patient and his mother. Thus, reassurance of the patient was done, and restoration of carious deciduous lower left first molar was done as planned.

Case 2

A 13-year-old boy referred from child health to the Department of Dental and Oral Surgery, Unit I for evaluation of delayed eruption of teeth. The patient was accompanied with his grandmother and gave a history that he had soft skull at birth with reduced birth weight, and his milestones were mildly delayed, but he was otherwise active. The family had consanguineous marriage for seven generations. He had a younger sister who was normal.

On extra-oral examination, we noticed brachycephalic skull, frontal bossing, depressed nasal bridge, midfacial deformity, deficient maxilla, missing of clavicles bilaterally [Figures 7 and 8].

Figure 7

Frontal picture

Figure 8

Profile photo

On intra-oral examination, he was found to have Class III skeletal malocclusion, partially erupted second molars and completely erupted first molars, few deciduous teeth are mobile and carious. Dental caries in 16, 26, 36, 85; Grade 11 mobility-51; Grade 1 mobility-61 were noted. Teeth present were 51, 52, 53, 54, 16, 17 (partially erupted) 61, 62, 63, 64, 65, 26, 27 (partially erupted) 31, 32, 33, 74, 75, 36, 37, 81, 82, 83, 84, 85, 46, 47 (partially erupted) [Figure 9].

Figure 9

Occlusion

Orthopantomogram revealed multiple impacted supernumerary teeth with incomplete root formation [Figure 10].

Figure 10

Orthopantamogram (Patient 2)

Blood investigations reveal mild elevation of blood phosphorous level 5.1 mg%.

Chest X-ray revealed the absence of clavicles [Figure 11].

Figure 11

- Chest Xray

Diagnosis of CCD was made from clinical and radiographical findings. Restoration of carious teeth was done with glass-ionomer cement.

Discussion

Cleidocranial dysplasia is a relatively uncommon disorder with a prevalence of one per one million live births. One of the most conjectural clinical findings of CCD is hypermobility of the shoulders. Due to the partial or complete absence of the clavicles, the shoulders could be brought forward to a close proximity to the chest.

In the first case, the clavicles were present but not formed to full extent, the hypermobility was found in the right shoulder to a greater extent as compared to the left whereas in the second case there was complete absence of clavicles. OPG revealed that total number of teeth present in the first case was 53 whereas in the second case, 62. In the first case, it was associated with rheumatic heart disease, which was a rare occurrence reported in the literature.

The appearance of the patient affected with CCD is diagnostic. Moderately short stature was observed.

Clinical features of CCD were as follows:[2]

Open fontanelle/delayed closure

Sutures remain open

Wormial bones: Common

Skull: Usually large broad and brachycephalic type

Hypolpasia of maxillae, lacrimal, nasal, and zygomatic bones

Underdeveloped and narrow paranasal sinuses

Prominent frontal, parietal, and occipital bones

Ocular hypertelorism and a mild exophthalmus

Defects of the vertebral column, pelvis, and long bones, as well as bones of the digits, are also relatively common

Anomalous muscles are secondary to bony involvement

Association with mental retardation has been shown, but most patients have normal intelligence.

Each of the following dentoalveolar characteristics of CCD is probably present in all cases to a greater or lesser degree:[3]

Over retained deciduous teeth without any resorption in roots

Delayed/retarded eruption of permanent teeth because of lessened eruptive potential, although it is not entirely absent

Multiple impacted supernumerary teeth that displace the developing permanent teeth and obstruct their eruption

The presence of supernumerary teeth has been hypothesized to result from incomplete or delayed resorption of the dental lamina, which is reactivated at the time of crown completion of the normal permanent dentition

Crypt formation around impacted and ectopic teeth

High narrow arched palate and infrequently cleft palate has been reported

Partial anodontia

Reduced height of the lower third of the face and a skeletal Class III tendency due to the underdevelopment of the maxilla and to an upward and forward mandibular rotation. The vertical development of the alveolar bone is markedly reduced, with a shallow buccal and lingual sulcus

Nonunion of the symphysis of the mandible may be present

A late but spontaneous eruption of first and usually second permanent molars in both the jaws

Delay in the root development of permanent teeth and the roots are short and thinner than the usual and may be deformed

Absence or lack of cellular cementum on the roots of the permanent teeth with no increased thickening of primary acellular cementum

It has been postulated that the failure of cementum formation may be due to mechanical resistance to eruption by the dense alveolar bone overlying the unerupted teeth.

The increase in odontogenesis leads to excessive number of supernumerary teeth. A study by Yamamota et al. using a light electron microscope together with a crystallographic technique to evaluate a patient who found to have unerupted teeth. They concluded that an early loss of gubernacular cords resulted in failure of a tooth to erupt.[4]

Radiographic features:

Wide anterior fontanel and sutures with Wormian bones in cranium; delayed ossification of the skull

Clavicles typically are reduced to single or double fragments on each side with the middle part being deficient

Poor/absent pneumatization of paranasal, frontal, and mastoid sinuses

The ossification of pelvic bones is delayed, especially pubic, and ischial bone is regularly observed

Spina bifida occulta is seen in the cervical and upper thoracic levels

Shortening and broadening of carpal, metacarpal, tarsal, and metatarsal bones

Mandible often demonstrates coarse trabeculation with areas of increased density

Acute gonial angle.

Hence, the confirmation of the diagnosis routinely includes:

Clinical examination of the cranium, the face and the clavicles, including shoulder mobility

The oral examination is done to compare the eruption status of the dentition and the patient's chronological age

Radiographic examination -– A critical confirmatory diagnostic tool that includes a chest X–ray and anteroposterior and lateral skull cephalometric radiographs. An OPG with supplementary periapical and occlusal views is needed to determine the number, size, and position of supernumerary teeth. After the advent of computed tomography, the localization and strategic planning of the impacted teeth has become even more predictable.

Management

The therapeutic proposal for the alteration in the dentoalveloar complex, in the bearer of CCD, involves the teeth restoration of the deciduous teeth when they present cavities, because their extraction does not necessarily induce the eruption of the permanent teeth. Orthodontic treatment is usually indicated to direct the eruption of the malposed and often impacted teeth. It also involves the orthognathic surgery to fix the maxillary hypoplasia and extraction of some of the supernumerary teeth may be needed. Surgical removal of impacted teeth may be done in association with orthodontic and/or prosthetic therapy. Timing of intervention is critical. Dentures can be fabricated over unerupted teeth.

We formulate a treatment protocol based on Roberts et al., [Table 1].[5]

Table 1

Dental treatment protocol

Thus, the patients with CCD require a team approach involving an orthodontist, prosthodontist, and an oral surgeon with good cooperation and communication from the patient.

Complications

Common complications of CCD include recurrent sinus infection, upper airway complications, recurrent ear infection, hearing loss, dental caries, dentigerous cyst, osteomyelitis of the mandible/maxilla, respiratory distress in early infancy, shoulder and hip dislocation, pes planus, genu valgum. However, even with these potential complications, the life span in such patients is normal.[6]

Conclusion

The clinical findings of CCD although present at birth are often missed or diagnosed at a much later time. Some cases are diagnosed through incidental findings by physicians treating patients for unrelated conditions. Thus, these cases are presented where the clinical appearance of the patient can alert clinicians to the possibility of the condition before performing any further investigations.