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 a rare hereditary condition with symptoms including joint contractures, skin folds, scoliosis, and various craniofacial and skeletal abnormalities. The case highlighted the complexity of managing such conditions, which required addressing metabolic disorders and performing surgical interventions to correct deformities.