Type I osteogenesis imperfecta and multiple osteochondromas in the same child : Journal of Pediatric Orthopaedics B

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Type I osteogenesis imperfecta and multiple osteochondromas in the same child

Calonge, Wenceslao M.a d; Matos, Gabriela; Pessoa, Deolindo L.a; Sanches, Maria C.b; Garcia, Helenac; Tercier, Stephaned

Author Information

Departments of aPediatric Orthopedics

bPediatric Radiology, Hospital Pediátrico do Centro Hospitalar de Coimbra

cDepartment of Pathology, Hospitais da Universidade de Coimbra, Portugal

dDepartment of Pediatric Surgery, Hôpital de l'Enfance de Lausanne, Switzerland

Correspondence to Wenceslao M. Calonge, MD, Service de Chirurgie Pédiatrique, Hôpital de l'Enfance de Lausanne, Chemin de Montétan 14, Lausanne CH-1003, Switzerland

Tel: +41 78 901 25 92; fax: +41 21 314 31 02; e-mail: [email protected]

Journal of Pediatric Orthopaedics B 18(2):p 106-109, March 2009. | DOI: 10.1097/BPB.0b013e328321cf3c

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.

© 2009 Lippincott Williams & Wilkins, Inc.

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