Pyknodysostosis, also known as Maroteaux-Lamy syndrome, is a rare,
autosomal recessive disorder, which was first described by Maroteaux and
Lamy1 and Andren et
al.2 in 1962. It has
been reported to have a prevalence of 1.7 per one million
disorder is characterized by short stature with short limbs, large skull
vault, small chin and face, high arched palate, retained deciduous teeth,
apparent clubbed fingers due to acro-osteolysis, pectus excavatum, and
Fractures of long bones are common with minor trauma, and they usually heal
with deformity. End-stage arthritis of the weight-bearing joints may occur.
The clinical and radiographic features are similar to those of osteopetrosis
and other osteosclerotic conditions. The most distinguishing feature in
pyknodysostosis is short stature with short limbs. Radiographically, the
osseous sclerosis is more uniform and a medullary canal is still identifiable
in the long bones, which is not the case with osteopetrosis.