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 in homozygous state: not reported till date to the best of our knowledge.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444763 | PMC |
| http://dx.doi.org/10.1177/1179547619837234 | DOI Listing |
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