Желудочно-кишечная и пищеварительная система

Абстрактный

Osteogenesis Imperfecta and Constipation: A Case Report

Marwa Abu El Haija

Osteogenesis imperfecta (OI) is a heterogeneous group of heritable group of disorders in which the amount of type-1 collagen is decreased or the type 1 collagen is abnormal . 90% of cases are due to autosomal dominant mutations, while the remaining 10% are due to autosomal recessive mutations or of unknown cause. Type III was found to be associated with chronic gastrointestinal (GI) problems including constipation. There are two studies that showed that children and adults who have OI Type III are more likely to have constipation and complaints of abdominal pain, constipation was contributed to pelvic deformities in those reports. We present a case of an 18 year- old female with chronic constipation and that was found to have Hirschsprung’s disease.