Clinical manifestations, diagnosis, and management of otospondylomegaepiphyseal dysplasia (OSMED): A case report and literature review

Abstract

The case involves a 16-year-old boy from Iran with various medical issues. He experiences morning pain in his knees, ankles, and limb deformity. His medical history revealed congenital deafness and a previous episode of fever and seizures. The boy's parents are related, and his 6-month-old sister, who had similar symptoms, passed away. Physical examination findings include short stature, shortened limbs, flexion contracture in the elbow joints, abnormalities such as enlarged knees and ankles, Pectus excavatum, short arms, protruding eyes, a flattened nose bridge, and finger deformities. X-ray results show enlarged joints, decreased thoracic vertebrae height, thoracic spine scoliosis, and thickened and fused wrist bones. Echocardiography and eye examination showed normal findings with no abnormalities, but audiometry revealed bilateral sensorineural hearing loss. Genetic testing confirmed a homozygous mutation in the COL11A2 gene, leading to a diagnosis of OSMED.