Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Type I osteogenesis imperfecta and multiple osteochondromas in the same child.
Journal of Pediatric Orthopedics. Part B
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
A male infant showed a humeral diaphysis fracture at 5 months of age and a distal tibial physis fracture at 2 years of age. A specialized consultant ruled out child abuse. This child had the characteristic features of type I osteogenesis imperfecta: blue sclerae, osseous fragility, and presumably autosomal dominant inheritance, as his father suffered from similar disorders. Later on, multiple painful osteochondromas were also found and some of these were surgically treated. The child's mother showed several peripheral osteochondromas. We describe the follow-up of this patient up to the age of 18 years. To our knowledge, the fortuitous association of these two inherited conditions has not been reported in medical literature.
Child, Child, Preschool, Exostoses, Multiple Hereditary/complications, Exostoses, Multiple Hereditary/genetics, Family Health, Female, Follow-Up Studies, Genes, Dominant, Humans, Humeral Fractures/etiology, Humeral Fractures/pathology, Infant, Male, Osteogenesis Imperfecta/complications, Osteogenesis Imperfecta/genetics, Pedigree, Tibial Fractures/etiology, Tibial Fractures/pathology, Treatment Outcome
Web of science
Last modification date