Escobar Syndrome (Multiple Pterygium Syndrome) Associated with Osteogenesis Imperfecta: A Case Report

The document presented a clinical case of a patient with a rare combination of genetic diseases: osteogenesis imperfecta and Escobar syndrome. Osteogenesis imperfecta is a hereditary disease characterized by a defect in type I collagen synthesis, leading to bone fragility, deformities, and sometimes blue sclera and deafness. Escobar syndrome, also known as multiple pterygium syndrome, is an orphan disease with unknown incidence, marked by joint contractures, skin folds, scoliosis, and various physical deformities, but typically does not affect intellectual development. The treatment for these conditions was complex, involving metabolic correction and surgical interventions to address limb deformities and other physical manifestations.