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Spondyloepimetaphyseal dysplasia with multiple dislocations

Known as: Spondyloepimetaphyseal dysplasia with multiple dislocations, hall type, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE 
A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment… 
National Institutes of Health

Related topics

Related topics

9 relations
Autosomal dominant inheritanceDislocation of radial headHip Dislocation, CongenitalJoint laxity

Broader (2)

DislocationsOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Energy modelling analysis of Heffron Hall
Background: The refurbishment of the Heffron Hall building in the community hub of East Sydney was found to be incomplete as the… 
Review
2014
Review
2014
MRI of the knee in children
The knee is the most frequent joint imaged with MRI in children. Common indications include assessment of internal derangement… 
2013
2013
On applicability of Hall-Petch law in metals
2012
2012
About practicality of Hall-Petch law in metals
About practicality of Hall-Petch law in metals O.N.Ignatova, V.V.Losev, A.N.Malyshev, D.M.Petrova, A.M.Podurets, V.A.Raevsky, M.I… 
2012
2012
REVISION ANTERIOR CRUCIATE LIGAMENT SURGERY AND GENERALISED LIGAMENTOUS LAXITY: IS THERE A RELATION?
Purpose The aim of the present study was to investigate the relationship between generalised ligament laxity and requirement for… 
2011
2011
XLID-Spondyloepimetaphyseal Dysplasia
2005
2005
Connection between individual evaluation systems to determin the successfulness of acl reconstruction
Background: The authors want to find correlation between ACL reconstruction results determined with various evaluation systems… 
2000
2000
Mesoscopic Microstructure Control of Aluminum Alloys and Limitation of Hall-Petch Relation
1989
1989
Reliability of force/displacement measures in a clinical device designed to measure ligamentous laxity at the knee.
This research was supported by a grant from The Foundation for Physical Therapy, Alexandria, VA. The purpose of this study was to… 
Review
1986
Review
1986
[Generalized laxity of the ligaments in children].
Authors reviewed the literature about the nomenclature and classification of ligamentous laxity syndrome. They are using the term…