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Journal of Children's Orthopaedics
Published in: Journal of Children's Orthopaedics 2/2015

Open Access 01-04-2015 | Original Clinical Article

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

Authors: Patrick Riley Jr., Dennis S. Weiner, Bonnie Leighley, David Jonah, D. Holmes Morton, Kevin A. Strauss, Michael B. Bober, Martin S. Dicintio

Published in: Journal of Children's Orthopaedics | Issue 2/2015

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Abstract

Purpose

Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. The disorder has several characteristic orthopaedic manifestations, including joint laxity, limited elbow extension, ankle varus, and genu varum. Immunodeficiency is of concern in most cases. Although patients exhibit orthopaedic problems, the orthopaedic literature on CHH patients is scant at best. The objective of this study was to characterize the orthopaedic manifestations of CHH based on the authors’ unique access to the largest collection of CHH patients ever reported.

Methods

The authors examined charts and/or radiographs in 135 cases of CHH. We analyzed the orthopaedic manifestations to better characterize and further understand the orthopaedic surgeon’s role in this disorder. In addition to describing the clinical characteristics, we report on our surgical experience in caring for CHH patients.

Results

Genu varum, with or without knee pain, is the most common reason a patient with CHH will seek orthopaedic consultation. Of the cases reviewed, 32 patients had undergone surgery, most commonly to correct genu varum.

Conclusion

This paper characterizes the orthopaedic manifestations of CHH. Characterizing this condition in the orthopaedic literature will likely assist orthopaedic surgeons in establishing a correct diagnosis and appreciating the orthopaedic manifestations. It is important that the accompanying medical conditions are appreciated and evaluated.
Appendix
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Metadata
Title
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations
Authors
Patrick Riley Jr.
Dennis S. Weiner
Bonnie Leighley
David Jonah
D. Holmes Morton
Kevin A. Strauss
Michael B. Bober
Martin S. Dicintio
Publication date
01-04-2015
Publisher
Springer Berlin Heidelberg
Published in
Journal of Children's Orthopaedics / Issue 2/2015
Print ISSN: 1863-2521
Electronic ISSN: 1863-2548
DOI
https://doi.org/10.1007/s11832-015-0646-z

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