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Current Osteoporosis Reports
Published in: Current Osteoporosis Reports 2/2017

Open Access 01-04-2017 | Rare Bone Disease (C Langman and E Shore, Section Editors)

Current Care and Investigational Therapies in Achondroplasia

Authors: Sheila Unger, Luisa Bonafé, Elvire Gouze

Published in: Current Osteoporosis Reports | Issue 2/2017

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Abstract

Purpose of Review

The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.

Recent Findings

Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery.

Summary

In this review, we identify the different options of care and management for the various orthopedic, neurologic, and respiratory complications. In parallel, several innovative or drug repositioning therapies are being investigated that would restore bone growth but may also prevent complications. Achondroplasia is the most common non-lethal skeletal dysplasia. It is characterized by short stature and a variety of complications, some of which can be quite severe. Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery. In this review, we identify the different options of care and management for the various orthopedic, neurologic, and respiratory complications. In parallel, several innovative or drug repositioning therapies are being investigated that would restore bone growth but may also prevent complications.
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Metadata
Title
Current Care and Investigational Therapies in Achondroplasia
Authors
Sheila Unger
Luisa Bonafé
Elvire Gouze
Publication date
01-04-2017
Publisher
Springer US
Published in
Current Osteoporosis Reports / Issue 2/2017
Print ISSN: 1544-1873
Electronic ISSN: 1544-2241
DOI
https://doi.org/10.1007/s11914-017-0347-2

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