ArticleClinical oral investigations2018
Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia.
Article in Clinical oral investigations, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- Differential diagnosis of molar incisor hypomineralisation and hypomineralised second primary molars: a scoping review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2026Review
- Genetic background of infantile hypophosphatemia: a narrative review.Translational pediatrics · 2026Review
- Oral Health Status and Parental Awareness in Children with X-Linked Hypophosphatemic Rickets: A Case-Control Study.Reports (MDPI) · 2025Article
- Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam.Diagnostics (Basel, Switzerland) · 2025Article
- Characteristics of oral health of patients with X-linked hypophosphatemia: case reports and literature review.BDJ open · 2024Review
- Oral health and oral-health-related quality of life in people with X-linked hypophosphatemia.BMC oral health · 2024Article
- Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism.JCEM case reports · 2023Article
- Congenital Conditions of Hypophosphatemia in Children.Calcified tissue international · 2021Review
- Long-term dental intervention and laboratory examination in a patient with Vitamin D-dependent rickets type I: A case report.Medicine · 2020Article
- Dentoalveolar Defects in theJournal of dental research · 2020Article
- Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia.Head & face medicine · 2019Article
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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objectivesVitamin-D-dependent rickets type 1A (VDDR1A) is a rare inherited disease caused by defective activation of vitamin D. The aim of the study was to describe the craniofacial characteristics and the dental phenotype of patients with genetically confirmed VDDR1A. The VDDR1A findings were compared to findings in patients with X-linked hypophosphatemia (XLH) and healthy controls. MATERIAL AND
methodsTen patients with VDDR1A were identified. The reference group for the comparison of cephalometric findings was 49 adults without chronic disease. The reference group for the comparison of dental findings was 30 adults with XLH. Clinical examination, clinical photos, and radiographs were obtained. Cephalometric analysis was performed. Photos and radiographs were visually evaluated.
resultsThe depth of the posterior cranial fossa (d-p and d-s-iop) in VDDR1A adults was reduced compared to the reference group (p < 0.05). Five (83%) of six adults with VDDR1A and one (4%) of 25 adults with XLH had enamel hypoplasia on several incisors and/or canines (p < 0.001). Three (75%) of four adults with VDDR1A and none of 16 adults with XLH had several first molars with enamel hypoplasia (p = 0.004). Five of 7 (71%) adults with VDDR1A and 24 of 30 (80%) adults with XLH had endodontically affected teeth.
conclusionsThe dental aberration of VDDR1A is more in line with the dental aberration of nutritional rickets than with the dental aberrations in XLH, suggesting the combination of low availability of both calcium and phosphate to be critical in periods of enamel formation. CLINICAL RELEVANCE: Knowledge on craniofacial and dental aberration in patients with rare diseases, e.g., inherited rickets, is of importance to the dental practitioner, especially during diagnostics and treatment in special care units.
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