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Correspondence to Dr Morankar Rahul; [email protected]
Background
Vitamin D–resistant rickets (VDRR) is an inherited disorder characterised by the resistance to vitamin D (Vit-D) therapy, which is considered as a mainstay in the management of rickets. Its signs start appearing in the first month of life and are characterised by the defective mineralisation at the ends of cartilage and bones. Albright et al were the first to document the case of VDRR.1 VDRR can be broadly classified into hypophosphatemic and pseudodeficiency types. The hypophosphatemic type is characterised by severe hypophosphatemia without the radiological signs of secondary hyperparathyroidism, whereas pseudodeficiency rickets shows hypocalcaemia with bone and musculoskeletal deformities. The former is inherited as an autosomal dominant entity, whereas the later is transmitted as an autosomal recessive trait.2 3
Dental findings in cases with VDRR include dentin defects, unusually large pulp chambers and enlarged pulp horns. Enamel hypoplasia has also been reported in some cases. The other findings include short roots, poorly defined lamina dura and hypoplastic alveolar ridges. These findings are more common in primary dentition than in permanent teeth.4 5 Histology of these teeth revealed the presence of large areas of interglobular dentin and calcospherites. The cephalometric studies had revealed deficient anterior cranial base length, ramus height and cranial base angle in these patients.6
This case report described the dental and maxillofacial manifestations in a 3-year-old girl diagnosed with VDRR (pseudodeficiency type) along with its differential diagnosis and a summary of variations in the clinical presentation among the cases reported in the literature.
Case presentation
The 3-year-old girl reported to the outpatient department of paediatric and preventive dentistry of a tertiary care hospital with a complaint of mobile teeth. The child was diagnosed with pseudo-Vit-D deficiency rickets and was under treatment at the department of paediatric nephrology. The diagnosis was based on clinical, radiographical and biochemical characteristics observed. There was a history of exfoliation of one of the child’s teeth due to mobility. Thus, anticipating the risk of aspiration of the remaining teeth, the treating physician referred the patient for a dental evaluation.
The child was born through normal delivery and non-consanguineous marriage. There was no history of similar illness among other family members (figure 1). The child’s legs were weak and...