Case Report: Four Siblings with Osteopetrosis and Pyloric Stenosis and Three Cousins with Osteopetrosis  

作　　者：Fahad Mishal Al Harbi Elsharif A. Bazie Marwah Ali Al Hausa Lamyaa Alomar Tasneem H. Aldraye Fahad Mishal Al Harbi;Elsharif A. Bazie;Marwah Ali Al Hausa;Lamyaa Alomar;Tasneem H. Aldraye(Paediatrics Emergency Department, Security Forces Hospital, Riyadh, Kingdom of Saudi Arabia)

机构地区：[1]Paediatrics Emergency Department, Security Forces Hospital, Riyadh, Kingdom of Saudi Arabia

出　　处：《Open Journal of Pediatrics》2023年第5期605-612,共8页儿科学期刊（英文）

摘　　要：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.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.

关 键 词：OSTEOPETROSIS Pyloric Stenosis Siblings 

分 类 号：R54[医药卫生—心血管疾病]