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Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia

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Abstract

ᅟObjectives

Vitamin-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 methods

Ten 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.

Results

The 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.

Conclusions

The 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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Authors and Affiliations

  1. Center for Oral Health in Rare Diseases, Department of Maxillofacial Surgery, Aarhus University Hospital, Noerrebrogade 44, 8000, Aarhus C, Denmark

    Hans Gjørup

  2. Department of Pediatrics, Kolding Hospital at Lillebaelt Hospital, Kolding, Denmark

    Signe Sparre Beck-Nielsen

  3. Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark

    Signe Sparre Beck-Nielsen

  4. Department of Dentistry and Oral Health, Aarhus University, Aarhus, Denmark

    Dorte Haubek

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  1. Hans Gjørup
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Corresponding author

Correspondence to Hans Gjørup.

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Conflict of interest

Signe Sparre Beck-Nielsen received payment from Pharmacosmos for participation in an expert meeting. Hans Gjørup and Dorte Haubek declare that they have no conflict of interest.

Funding

This work was supported by grants from The Danish Dental Association and The Public Health Dentists Association in Denmark.

Ethical approval

All procedures performed in the present study involving human participants were approved by the Ethics Committee of Southern Denmark (record # M-2678-05) and by the Danish Data Protection Agency (record # 2008-41-2187) and in accordance with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study and/or from their parents.

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Gjørup, H., Beck-Nielsen, S.S. & Haubek, D. Craniofacial and dental characteristics of patients with vitamin-D-dependent rickets type 1A compared to controls and patients with X-linked hypophosphatemia. Clin Oral Invest 22, 745–755 (2018). https://doi.org/10.1007/s00784-017-2149-4

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  • DOI: https://doi.org/10.1007/s00784-017-2149-4

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