CLEIDOCRANIAL DYSPLASIA

1. CLEIDOCRANIAL DYSPLASIA DISEASES OF BONES AND JOINTS

2. CLEIDOCRANIAL DYSPLASIA Also known as marie & sainton’s disease,scheuthaner-marie-saniton syndrome,mutational dystosis . DEF: it is defined as a congenital disorder of bone formation manifested with clavicular hypoplasia or agenesis with a narrow thorax, with allows approximation of the shoulders in front of the chest.

3. It is a congenital condition transmitted as autosomal dominant trait. It is manifested as retardation or partial failure of the development of the bones of the clavicle and of the skull but not of the mandible.

4. Etiology : It is familial and appears as true dominant mendelian characteristic. Mutations in the core binding factor alpha 1 (CBFA) gene located on chromosome 6p21 is the cause of cleidocranial dysplasia.

5. CLINICAL FEATURES: Characterized by abnormalities of skull, teeth,jaw,shoulder girdle as well as by occasional stunting of long bones. Head is brachycephalic. Paranasal sinuses are underdeveloped and narrow. Faulty development of foramen magnum. Dysplasia of paranasal sinuses.

6. Defect of shoulder girdle ranges from absence of clavicle about in 10% of cases, to partial absence or even thinning of one or both clavicles. Defects of vertebral column, pelvis & long bones as well as of bones of disease are also relatively common.

7. ORAL MANIFESTATIONS: Maxilla & paranasal sinuses are underdeveloped resulting in maxillary macrognathia. Maxilla underdeveloped in relation to mandible. Prolonged retention of deciduous teeth and subsequent delay in eruption of teeth.

8. Complete absence of cementum. Disorganization of developing permanent dentition. Presence of supernumerary teeth usually in anterior region. High narrow arched palate and cleft palate is common. Roots of teeth are often shirt and thinner than normal. Crown may be pilled as a result of enamel hypoplasia .

9. RADIAGRAPHIC EXAMINATION: Clavicles are typically reduced to single or double fragments on each side with middle part being deficient. Changes are asymmetric. Delay in ossification of pelvic bones especially pubic & Ischial bones. Spina bifida occulta observed in cervical and upper thoracic levels.

10. Treatment: No specific treatment. Care of oral condition is important. Retained deciduous tooth should be restored if they become carious.