Osteopetrosis incidence is less than 1:200,000 birth in most populations (Worth, 1963) . It's more common in consanguineous people as it's unusual in two members of the same family. The defined treatment for Osteopetrosis is Hematopoietic stem cell transplantation (HSCT). With a 73% five years disease-free survival in donors.
The incidence of Hypertrophic pyloric stenosis is 1 in 300–900 newborns. Hypertrophic pyloric stenosis is due to hypertrophy of the smooth muscle of the pyloric sphincter. The classic age of occurrence is the first few months of life, and the classic presentation is non-bilious projectile vomiting after feeding.
We reported a four family members with Osteopetrosis and Pyloric stenosis and their three cousins with Osteopetrosis, which is a very rare presentation and association.