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Case Reports
. 2019 Apr 1:12:1179547619837234.
doi: 10.1177/1179547619837234. eCollection 2019.

A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report

Affiliations
Case Reports

A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report

Inder Pal Singh Kochar et al. Clin Med Insights Case Rep. .

Abstract

Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T>C, p.Y283H, in exon 7 of the CTSK in homozygous state: not reported till date to the best of our knowledge.

Keywords: CTSK gene; Pycnodysostosis; novel variant.

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Conflict of interest statement

Declaration of conflicting interests:The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Child showing dysmorphic features (frontal bossing, prominent cheeks, micrognathia, high nasal bridge, broad philtrum, and shorter fingers with spoon-shaped nails giving drumstick appearance).
Figure 2.
Figure 2.
X-ray of both hands with acro-osteolysis of the terminal phalanges with increased bone density of all the bones.
Figure 3.
Figure 3.
X-ray of skull lateral views showing wide open fontanel.
Figure 4.
Figure 4.
X-ray of spine lateral view.

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