Type I osteogenesis imperfecta and multiple osteochondromas in the same child.

Details

Serval ID
serval:BIB_F11D86770B89
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Type I osteogenesis imperfecta and multiple osteochondromas in the same child.
Journal
Journal of Pediatric Orthopedics. Part B
Author(s)
Calonge W.M., Matos G., Pessoa D.L., Sanches M.C., Garcia H., Tercier S.
ISSN
1473-5865 (Electronic)
ISSN-L
1060-152X
Publication state
Published
Issued date
2009
Volume
18
Number
2
Pages
106-109
Language
english
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Abstract
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.
Keywords
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
Pubmed
Web of science
Create date
14/06/2013 8:57
Last modification date
20/08/2019 17:18
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