Osteopetrosis incidence is less than 1:200,000 births in most populations. It’s more common in consanguineous people as it’s unusual for two members of the same family. The incidence of Hypertrophic pyloric stenosis...Osteopetrosis incidence is less than 1:200,000 births in most populations. It’s more common in consanguineous people as it’s unusual for two members of the same family. 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 report a rare association of osteopetrosis and pyloric stenosis in four siblings and osteopetrosis in three cousins. All four patients were operated on and followed by nephrology and metabolic departments for osteopetrosis and metabolic acidosis.展开更多
文摘Osteopetrosis incidence is less than 1:200,000 births in most populations. It’s more common in consanguineous people as it’s unusual for two members of the same family. 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 report a rare association of osteopetrosis and pyloric stenosis in four siblings and osteopetrosis in three cousins. All four patients were operated on and followed by nephrology and metabolic departments for osteopetrosis and metabolic acidosis.
