Type I osteogenesis imperfecta and multiple osteochondromas in the same child

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.

Osteogenesis Imperfect Type 5 and Fibular Tumor in 2 Brothers: A Case Report

“…Calonge WM and collaborators published in 2009 the finding of osteochondroma in a patient with type 1 OI. He was accompanied from 5 months of age to 18 years of age, with a family history corresponding to OI in the paternal lineage, and with a mother affected by multiple osteochondromes [19].…”

“…We managed to find described in the literature the association of OI with bone tumors in locomotor apparatus in the following quantitative: 02 cases with multiple myeloma [10,11,07] cases with osteosarcomas [12] to [18,01] case with osteochondromas [19,01] cases with chondrosarcoma20 and a cystic bone formation [21].…”