A Novel Variant c.847T>C in Gene Leading to Pycnodysostosis: A Case Report
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 pr...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2019-03-01
|
| Series: | Clinical Medicine Insights: Case Reports |
| Online Access: | https://doi.org/10.1177/1179547619837234 |
| Summary: | 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. |
|---|---|
| ISSN: | 1179-5476 |