Craniofacial morphology in patients with hypophosphataemic vitamin‐D‐resistant rickets: a cephalometric study

Abstract

Hypophosphataemic vitamin-D-resistant rickets (HVDRR) is a hereditary disease mainly transmitted as an X-linked dominant trait and characterized by certain general clinical signs (Filho HM, de Castro LC, Damiani D. Arq Bras Endocrinol Metab. 2006;50:802). In literature, only one study had been published in 1965 on the cephalometric findings in patients with HVDRR (Marks SC, Lindahl RL, Bawden JW. J Dent Child. 1965;32:259). This is the first detailed study on craniofacial characteristics of patients with HVDRR in the dental literature. The aim of this study was to determine the effect of HVDRR on the parameters of the craniofacial skeleton of young Jordanian patients using cephalometric analysis. Lateral cephalometric radiographs were made for 22 Jordanian children (aged 2-16 years) diagnosed with HVDRR. The cephalometeric parameters of HVDRR group were compared with those of normal control group matched for gender and chronological age using paired t-test. The HVDRR group had a significant increase in the SNBa angle (P < 0.01); as well as reduced anterior cranial base length (P = 0.01), reduced maxillary length, corpus mandibular length and mandibular height (P = 0.01, 0.04 and 0.008 respectively). The cranial base and gonial angles were significantly increased in diseased individual, but the SNA and ANB angles were significantly reduced (P = 0.018 and 0.000 respectively). The angulation of the lower incisor to mandibular plane was also significantly reduced in the diseased group compared with Jordanian norm (P = 0.004). Patients with HVDRR have deficiency in the anterior cranial base length, ramus height and cranial base angle. Patients with HVDRR also have class III skeletal relationship.

Craniofacial morphology in patients with hypophosphatemic rickets: A cephalometric study focusing on differences between bone of cartilaginous and intramembranous origin

“…The present study is based on a higher number of patients with HR in comparison with other studies [Marks et al, 1965; Tracy and Campbell, 1968; Al‐Jundi et al, 2009]. Furthermore, the genetic as well as the biochemical profile of the diseased individuals fulfilled well‐defined diagnostic criteria of HR [Beck‐Nielsen et al, 2010].…”

“…Recently, a cephalometric study of 22 Jordanian patients with HR described a shortened anterior cranial base and maxilla as well as reduced mandibular dimensions compared to a healthy age‐ and gender‐matched control group. The cranial base was flattened and HR patients had a skeletal Class III malocclusion [Al‐Jundi et al, 2009]. In addition, anthropometric studies have described an increased cranial length and occipital width as well as increased head circumference in HR patients [Pronicka et al, 2004; Beck‐Nielsen et al, 2010].…”

A radiological study on intra‐ and extra‐cranial calcifications in adults with X‐linked hypophosphatemia and associations with other mineralizing enthesopathies and childhood medical treatment

“…In studies on rare diseases, it is an ever‐standing challenge to achieve a reasonable sample size. The previously published cephalometric XLH studies included up to 22 XLH patients . This study, which includes 36 patients, adds further to the total number of reported XLH cases dealing with an assessment of cranial deviations.…”

“…XLH affects the cranium in humans , and in HYP mice (the murine model of XLH) . Furthermore, XLH patients have dental abnormalities and endodontically affected teeth are common in adults with XLH .…”

Interrelationships between chronic tension-type headache, musculoskeletal pain, and vitamin D deficiency: Is osteomalacia responsible for both headache and musculoskeletal pain?

“…[39] Cephalometric analysis has demonstrated altered craniofacial morphology in a few studies on rickets patients. [40] Therefore, a possibility of osteomalacic changes exists in the adult population with vitamin D deficiency.…”