Abstract
Background
Abnormal development and growth of the capital femoral epiphysis and acetabulum are associated with a wide variety of underlying etiologies, one of which is Legg-Calvé-Perthes disease.
Case Description
We report the cases of two children who presented with abnormal development of both hips and in whom novel mutations in the COL2A1 gene were found. These cases illustrate the importance of identifying individuals with a type II collagen abnormality, as it informs management, allows investigation for other complications, and provides the opportunity for accurate genetic counseling and consideration of other family members who might be at risk.
Literature Review
The literature documents numerous private mutations in COL2A1 associated with diverse clinical phenotypes including bilateral hip dysplasia and premature osteoarthritis. Some of these mutations are associated with a joint-specific phenotype but few other skeletal or extraskeletal manifestations. Only careful clinical examination of children presenting with hip anomalies therefore will reveal additional findings that warrant an evaluation by a clinical geneticist. DNA mutation analysis may be useful for making a specific diagnosis and identifying other at-risk family members.
Purposes and Clinical Relevance
The purpose of our report is to alert clinicians to the possibility that children who present with bilateral Perthes-like disease of the hip might have an underlying mutation in the gene encoding type II collagen. It is important to consider this in the differential diagnosis and workup of such children as it has specific prognostic, clinical, genetic counseling, and reproductive sequelae.
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Acknowledgements
We thank Shannon Cowie and Dr. D. du Sart for performing mutational analyses in the cases provided.
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One or more of the authors has received funding from the National Health and Medical Research Council (NHMRC) Australia (PK), the Gustav Nossal NHMRC Scholarship (PK), the Ellison-Cliffe Travel Fellowship, the Royal Society of Medicine (MI), and Guy’s and St Thomas’ Charity (MI).
Each author certifies that his or her institution approved the reporting of this case report, that all investigations were conducted in conformity with ethical principles of research, and that informed consent for participation in the study was obtained.
This work was performed at the Royal Children’s Hospital (Melbourne) and the Hospital for Sick Children (Toronto).
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Kannu, P., Irving, M., Aftimos, S. et al. Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation. Clin Orthop Relat Res 469, 1785–1790 (2011). https://doi.org/10.1007/s11999-011-1850-x
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DOI: https://doi.org/10.1007/s11999-011-1850-x