Introduction
Maroteaux and Lamy defined a clinical condition known as pycnodysostosis for the first time in 1962. Toulouse-Lautrec syndrome was named after the French artist Henri de Toulouse-Lautrec, who (it is believed) had the disorder. The faulty gene for pycnodysostosis was found in 1996. (1)
Discovering the faulty gene that causes pycnodysostosis allows for more accurate diagnosis, carrier testing, and knowledge of the illness. It is an autosomal recessive osteochondrodysplasic disorder that is often identified in childhood. It is a bone lysosomal storage disorder caused by mutations in the gene encoding the enzyme cathepsin K on chromosome 1, with an estimated frequency of 1–3 per 1,000,000 people. (2) Here, we describe a case in which a pregnant female with pycnodysostosis presented for elective cesarean section.