Hans Gjørup1, Signe Sparre Beck-Nielsen2,3, Dorte Haubek4. 1. Center for Oral Health in Rare Diseases, Department of Maxillofacial Surgery, Aarhus University Hospital, Noerrebrogade 44, 8000, Aarhus C, Denmark. hangjo@rm.dk. 2. Department of Pediatrics, Kolding Hospital at Lillebaelt Hospital, Kolding, Denmark. 3. Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark. 4. Department of Dentistry and Oral Health, Aarhus University, Aarhus, Denmark.
Abstract
ᅟ OBJECTIVES: 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.
ᅟ OBJECTIVES: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.
Authors: T Boukpessi; D Septier; S Bagga; M Garabedian; M Goldberg; C Chaussain-Miller Journal: Calcif Tissue Int Date: 2006-11-14 Impact factor: 4.333
Authors: S Kitanaka; K Takeyama; A Murayama; T Sato; K Okumura; M Nogami; Y Hasegawa; H Niimi; J Yanagisawa; T Tanaka; S Kato Journal: N Engl J Med Date: 1998-03-05 Impact factor: 91.245
Authors: Marlene Zambrano; Nikolaos G Nikitakis; M Carmen Sanchez-Quevedo; John J Sauk; Heddie Sedano; Helen Rivera Journal: Oral Surg Oral Med Oral Pathol Oral Radiol Endod Date: 2003-06
Authors: H Zhang; M B Chavez; T N Kolli; M H Tan; H Fong; E Y Chu; Y Li; X Ren; K Watanabe; D G Kim; B L Foster Journal: J Dent Res Date: 2020-01-24 Impact factor: 6.116