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Case Reports in OrthopedicsVolume 2014 2014, Article ID 780959, 4 pages

Case Report

Ludwig Boltzmann Institute of Osteology, The Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Heinrich Collin Street 30, 1140 Vienna, Austria

Orthopaedic Hospital of Speising, Paediatric Department, Speisinger Street 109, 1130 Vienna, Austria

Received 3 January 2014; Accepted 17 February 2014; Published 18 March 2014

Academic Editors: P. Carpintero, A. Sakamoto, and M. H. Zheng

Copyright © 2014 Ali Al Kaissi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Swellings over the upper and lower limbs were encountered in a one-year-old child. Skeletal survey showed a constellation of distinctive radiographic abnormalities of osteoporosis, hyperplastic callus and ossification of the interosseous membrane of the forearm, femora, and to lesser extent the tibiae. Neither wormian bones of the skull nor dentinogenesis imperfecta was present. Genetic tests revealed absence of mutation in COL1A1 or COL1A2 genes, respectively. The overall phenotypic features were consistent with the diagnosis of osteogenesis imperfecta type V OI-V. The aim of this paper is to distinguish between swellings because of intrinsic bone disorders and these due to child physical abuse.





Autor: Ali Al Kaissi, Rudolf Ganger, Klaus Klaushofer, and Franz Grill

Fuente: https://www.hindawi.com/



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