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

Détails

ID Serval
serval:BIB_F11D86770B89
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Type I osteogenesis imperfecta and multiple osteochondromas in the same child.
Périodique
Journal of Pediatric Orthopedics. Part B
Auteur⸱e⸱s
Calonge W.M., Matos G., Pessoa D.L., Sanches M.C., Garcia H., Tercier S.
ISSN
1473-5865 (Electronic)
ISSN-L
1060-152X
Statut éditorial
Publié
Date de publication
2009
Volume
18
Numéro
2
Pages
106-109
Langue
anglais
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
14/06/2013 8:57
Dernière modification de la notice
20/08/2019 17:18
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