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Chapter 21 - Skeletal Dysplasia

from Section 3 - Core Paediatric Orthopaedics

Published online by Cambridge University Press:  30 January 2024

Sattar Alshryda
Affiliation:
Al Jalila Children’s Specialty Hospital, Dubai Academic Health Corporation, Dubai UAE
Stan Jones
Affiliation:
Al Ahli Hospital, Qatar
Paul A. Banaszkiewicz
Affiliation:
Queen Elizabeth Hospital, Gateshead
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Summary

Skeletal dysplasia (SD) is a heterogenous group of inherited disorders characterized by abnormal growth of bone and/or cartilage, resulting in abnormal shape and size of the skeleton, spine, and/or head.

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Postgraduate Paediatric Orthopaedics
The Candidate's Guide to the FRCS(Tr&Orth) Examination
, pp. 369 - 384
Publisher: Cambridge University Press
Print publication year: 2024

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References

Fairbank, T. An atlas of general affections of the skeleton. By Sir Thomas Fairbank, D.S.O., O.B.E., M.S., Hon. M.Ch. (Orth.), F.R.C.S., Consulting Orthopaedic lSurgeon and Emeritus Lecturer in Orthopaedic Surgery, King’s College Hospital. 7 × 10 ¼ in. Pp. 411 + xx, with 510 illustrations. 1951. Edinburgh: E. & S. Livingstone Ltd. 55s. Br J Surg. 1952;39(156):383.Google Scholar
Rubin, P. Dynamic classification of bone dysplasias. Acad Med. 1964;39(11):1059.Google Scholar
Bonafe, L, Cormier-Daire, V, Hall, C, et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet Part A. 2015;167A:2869–92.Google Scholar
Savarirayan, R, et al. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020;396(10252):684–92.Google Scholar

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