Dental characteristics in a Saudi pediatric patient with vitamin D-dependent rickets type 1A: a case report

Abstract Background Vitamin D-dependent rickets (VDDR) is a disorder causing softened and weak bones. It's classified into two types: VDDR-I and VDDR-II. VDDR-I is a rare autosomal recessive condition due to 1α-hydroxylase gene mutations, characterized by delayed motor development, weak muscles, bone deformities, and short stature. Laboratory findings of patients with VDDRI include low calcium, elevated parathyroid hormone, and reduced 1,25-dihydroxyvitamin D3 levels. Aim This study aims to document the orodental manifestations of vitamin D dependent ricket type 1A in two years and five months old Saudi girl. Clinical description Two years and five months old Saudi female diagnosed with vitamin D-dependent rickets type 1A, who was referred to the Pediatric Dentistry Clinic for management. Born preterm at 32 weeks of gestation to consanguineous parents, the patient presented with delayed motor development, weakness, and a history of a left femur fracture. She continues to receive vitamin D and calcium supplementation as part of her current management. Clinical examination revealed a convex facial profile, low-set ears, and weakness in her lower limbs. Intraoral examination showed primary dentition with premature loss of a central incisor, thin and hypoplastic enamel, multiple carious lesions and delayed eruption of teeth. Intraoral radiographs showed thin enamel and dentin, large pulp chambers, and poorly defined lamina dura. Conclusion This case highlights the importance of appropriate dental care and nutritional counseling in the management of patients with VDDR-I. Early intervention and regular follow-up are essential to prevent disease progression and maintain oral health.