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.