Type I osteogenesis imperfecta and multiple osteochondromas in the same child.
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.
Calonge
Wenceslao M
WM
Department of Pediatric Orthopedics, Hospital Pediátrico do Centro Hospitalar de Coimbra, Portugal. wcalonge@yahoo.es
Matos
Gabriel
G
Pessoa
Deolindo L
DL
Sanches
Maria C
MC
Garcia
Helena
H
Tercier
Stephane
S
D002648:Child; D002675:Child, Preschool; D005097:Exostoses, Multiple Hereditary / Q000150:complications / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006801:Humans; D006810:Humeral Fractures / Q000209:etiology / Q000473:pathology; D007223:Infant; D008297:Male; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D010375:Pedigree; D011859:Radiography; D013978:Tibial Fractures / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D016896:Treatment Outcome