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Chapter 24 - Orthopaedic-Related Syndromes

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

Many of the syndromes of ‘orthopaedic interest’ rely on the clinical skills of pattern recognition and some knowledge of genetics. Increasingly, in any given patient, the genotype can be mapped and the genetic mishap identified. However, whilst this does not always improve our understanding of the patient’s phenotype, it can help our appreciation of which other systems are affected and perhaps in which way.

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Chapter
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Postgraduate Paediatric Orthopaedics
The Candidate's Guide to the FRCS(Tr&Orth) Examination
, pp. 413 - 423
Publisher: Cambridge University Press
Print publication year: 2024

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References

Maranho, DA, Fuchs, K, Kim, Y-J, Novais, EN. Hip instability in patients with Down syndrome. J Am Acad Orthop Surg 2018;26(13):455–62.Google Scholar
Haffner, D, Emma, F, Eastwood, DM, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15(7):435–55.Google Scholar
Keppler-Noreuil, KM, Rios, JJ, Parker, VE, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287–95. kGoogle Scholar

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