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. 2016:2016:4803167.
doi: 10.1155/2016/4803167. Epub 2016 May 31.

Hypophosphatemic Rickets in Siblings: A Rare Case Report

Gummadapu Sarat  1 , Nuthalapati Priyanka  1 , Meka Purna Venkata Prabhat  1 , Chintamaneni Raja Lakshmi  1 , Sujana Mulk Bhavana  1 , Dharmavaram Ayesha Thabusum  1
Affiliations

Hypophosphatemic Rickets in Siblings: A Rare Case Report

Gummadapu Sarat et al. Case Rep Dent. 2016.

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.

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Figures

Figure 1
Figure 1
Showing frontal bossing and depressed nasal bridge.
Figure 2
Figure 2
Showing no signs of rachitic rosary and Harrison's groove.
Figure 3
Figure 3
Showing no signs of widening of metaphysis.
Figure 4
Figure 4
Showing knock knees.
Figure 5
Figure 5
Showing missing teeth in relation to upper and lower anterior ends and mixed dentition.
Figure 6
Figure 6
Chest radiograph.
Figure 7
Figure 7
Radiograph of hip with femur and tibia.
Figure 8
Figure 8
Wrist radiograph.
Figure 9
Figure 9
OPG.
Figure 10
Figure 10
Showing rachitic rosary, incompetent lips, and macroglossia.
Figure 11
Figure 11
Showing Harrison's groove on the chest region.
Figure 12
Figure 12
Showing widening of metaphysis.
Figure 13
Figure 13
Showing bowed legs and enlargement of ankles.
Figure 14
Figure 14
Showing mixed dentition and missing teeth in relation to upper and lower anterior ends.
Figure 15
Figure 15
Chest radiograph.
Figure 16
Figure 16
Radiograph of hip with femur and tibia.
Figure 17
Figure 17
Wrist radiograph.
Figure 18
Figure 18
Intraoral periapical radiographs.
Figure 19
Figure 19
See this image and copyright information in PMC

References

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