Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-586b7cd67f-rcrh6 Total loading time: 0 Render date: 2024-11-29T11:51:26.711Z Has data issue: false hasContentIssue false

Chapter 24 - Orthopaedic-Related Syndromes

from Section 3 - Core Paediatric Orthopaedics

Published online by Cambridge University Press:  30 January 2024

By
Deborah M. Eastwood
Edited by
Sattar Alshryda ,
Stan Jones  and
Paul A. Banaszkiewicz
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
Get access

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.

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

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

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

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×