1
40
1
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1002/ajmg.a.36047" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.36047</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Orthopedic manifestations and implications for individuals with Costello syndrome
Publisher
An entity responsible for making the resource available
American Journal of Medical Genetics Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2013
Subject
The topic of the resource
tone and motor problems; Costello syndrome; trajectory; characteristics; orthopedic manifestations
Creator
An entity primarily responsible for making the resource
Detweiler S; Thacker M M; Hopkins E; Conway L; Gripp K W
Description
An account of the resource
Costello syndrome is a rare genetic condition caused by heterozygous alterations in HRAS and characterized by multi-system abnormalities. Individuals with Costello syndrome usually present with severe feeding difficulties in infancy, short stature, coarse facial features, increased tumor risks, cardiac and neurological complications, intellectual disability and orthopedic complications. This study further defines the orthopedic manifestations affecting individuals with Costello syndrome. We studied 43 participants and performed medical records review, clinical examinations and orthopedic inquiry forms. In 23 participants, hip and or spinal imaging assessments were completed. Serial radiographs were analyzed when available. A total of 25 orthopedic manifestations were identified. Ten manifestations were seen in the majority of the participants: hypotonia (87%), ligamentous laxity (85%), scoliosis (63%), kyphosis (58%), characteristic hand deformities (85%), ulnar deviation of the wrist (63%), elbow (55%) and shoulder contractures (65%), tight Achilles tendon (73%), and pes planus (53%). Other characteristics of special note were hip dysplasia (45%), foot deformities requiring surgical intervention (38%) and osteopenia/osteoporosis (47%). We also studied the development of the hips and spine. Uni- or bilateral hip dysplasia was congenital in some, while it developed throughout childhood in others. Spinal involvement included scoliosis, kyphosis, lordosis, and curvature reversal (thoracic lordosis and lumbar kyphosis). Based on these findings, we recommend routine referral to an orthopedic surgeon as well as instituting screening protocols for hips and spine for individuals with Costello syndrome.Copyright © 2013 Wiley Periodicals, Inc.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.36047" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.36047</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2013
American Journal of Medical Genetics Part A
characteristics
Conway L
costello syndrome
Detweiler S
Gripp K W
Hopkins E
orthopedic manifestations
Thacker M M
tone and motor problems
Trajectory