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Disease-specific complications and multidisciplinary interventions in achondroplasia

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Journal of Bone and Mineral Metabolism Aims and scope Submit manuscript

Abstract

Achondroplasia (ACH) is the most common skeletal dysplasia and characterized by a disproportionate short stature, macrocephaly with frontal bossing, exaggerated lumbar lordosis, and trident hands. It is induced by activated mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. In addition to short stature, patients with ACH have a high prevalence of medical complications, including upper airway obstructive apnea, increased mortality, foramen magnum stenosis, hydrocephalus, developmental delay, recurrent ear infections, genu varum, obesity, and spinal canal stenosis, throughout their whole life. Several investigational drugs that modulate abnormal FGFR3 signaling have recently emerged, vosoritide being the most developed. This review presents the different disease-specific complications of ACH occurring in neonates, infants, childhood, adolescent, and adults and reports the current multidisciplinary interventions for these various complications. Moreover, we propose treatment strategies for children with ACH from the perspective of quality of life in adulthood.

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Acknowledgements

We would like to thank Editage (www.editage.com) for English language editing.

Funding

This work was supported by the Health Labor Sciences Research Grants, the Ministry of Health, Labor and Welfare, Japan (Grant number, 19FC1006).

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Authors and Affiliations

  1. Department of Orthopaedic Surgery, Aichi Children’s Health and Medical Center, 7-426 Morioka, Obu, Aichi, 474-8710, Japan

    Hiroshi Kitoh

  2. Department of Comprehensive Pediatric Medicine, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan

    Hiroshi Kitoh

  3. Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan

    Masaki Matsushita, Kenichi Mishima, Yasunari Kamiya & Kenta Sawamura

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  1. Hiroshi Kitoh
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  2. Masaki Matsushita
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Correspondence to Hiroshi Kitoh.

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Kitoh, H., Matsushita, M., Mishima, K. et al. Disease-specific complications and multidisciplinary interventions in achondroplasia. J Bone Miner Metab 40, 189–195 (2022). https://doi.org/10.1007/s00774-021-01298-z

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  • DOI: https://doi.org/10.1007/s00774-021-01298-z

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