Hypophosphatemic Rickets in Siblings: A Rare Case Report

Abstract

Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX), identified in 1995. The X-linked hypophosphatemic (XLH) rickets is a rare hereditary metabolic disorder with a prevalence of 1 in 20,000 and causes deficient calcification of mineralized structures such as bones and teeth resulting in dental problems in terms of delayed eruption, spontaneous periapical infections, and exfoliation. We report one such unique case of hypophosphatemic vitamin D-resistant rickets in siblings exhibiting classical features of rickets with emphasis on its treatment and dental considerations.

Figure 1

Showing frontal bossing and depressed nasal bridge.

Figure 2

Showing no signs of rachitic rosary and Harrison's groove.

Figure 3

Showing no signs of widening of metaphysis.

Figure 4

Showing knock knees.

Figure 5

Showing missing teeth in relation to upper and lower anterior ends and mixed dentition.

Figure 6

Chest radiograph.

Figure 7

Radiograph of hip with femur and tibia.

Figure 8

Wrist radiograph.

Figure 9

OPG.

Figure 10

Showing rachitic rosary, incompetent lips, and macroglossia.

Figure 11

Showing Harrison's groove on the chest region.

Figure 12

Showing widening of metaphysis.

Figure 13

Showing bowed legs and enlargement of ankles.

Figure 14

Showing mixed dentition and missing teeth in relation to upper and lower anterior ends.

Figure 15

Chest radiograph.

Figure 16

Radiograph of hip with femur and tibia.

Figure 17

Wrist radiograph.

Figure 18

Intraoral periapical radiographs.

Figure 19