ORAL MANIFESTATION AND MANAGEMENT IN VITAMIN D-DEPENDENT RICKETS TYPE I: A CASE REPORT AND LITERATURE REVIEW

Abstract

Background: Vitamin D-dependent rickets type I (VDDR-I) is an autosomal recessive disorder caused by the inactivating mutations in the 25-hydroxy vitaminD-1α-hydroxylase genes. Clinical features in individuals with VDDR-I include growth retardation, generalized weakness, and an increased risk of pathologic fractures. Oral manifestations and their treatment associated with this disorder are limited, with only three case reports and one case series reported to date regarding the oral findings in VDDR-I patients.

Objectives: To increase awareness of VDDR-I, highlighting its characteristic features, oral manifestations, and treatment protocols.

Methodology: An 8-year-old male Saudi patient diagnosed with VDDR-I presented in the Pediatric Dentistry Clinic. The oral & radiological findings and their treatment protocol were documented.

Results: The dental examination of the patient revealed marked enamel hypoplasia in the permanent maxillary incisors, slightly enlarged pulp chambers in the molars, congenitally missing mandibular second premolar, and the presence of pulp stones in all the mandibular anterior teeth.

Conclusion: Mild to severe enamel hypoplasia can be managed with esthetic reconstruction using composite build-ups and ceramic veneers.