Type I osteogenesis imperfecta and multiple osteochondromas in the same child.
| Data(s) |
2009
|
|---|---|
| Resumo |
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. |
| Identificador |
http://serval.unil.ch/?id=serval:BIB_F11D86770B89 isbn:1473-5865 (Electronic) pmid:19238096 doi:10.1097/BPB.0b013e328321cf3c isiid:000265133200013 |
| Idioma(s) |
en |
| Fonte |
Journal of Pediatric Orthopedics. Part B, vol. 18, no. 2, pp. 106-109 |
| Palavras-Chave | #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 |
| Tipo |
info:eu-repo/semantics/article article |