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An unusual phenotype of radial longitudinal deficiency (radial hemimelia) presenting in a young adult male()()()

Radial longitudinal deficiency is a rare skeletal anomaly characterized by a defect in the development of structures that form the radial half of the forearm. The disorder is associated with a large spectrum of preaxial abnormalities. It is shown that the thumb and preaxial carpal bones are almost a...

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Autores principales: Özdemir, Meltem, Kavak, Rasime P., Akdağ, Mehmet, Güven, Selda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155002/
https://www.ncbi.nlm.nih.gov/pubmed/32308776
http://dx.doi.org/10.1016/j.radcr.2020.02.023
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author Özdemir, Meltem
Kavak, Rasime P.
Akdağ, Mehmet
Güven, Selda
author_facet Özdemir, Meltem
Kavak, Rasime P.
Akdağ, Mehmet
Güven, Selda
author_sort Özdemir, Meltem
collection PubMed
description Radial longitudinal deficiency is a rare skeletal anomaly characterized by a defect in the development of structures that form the radial half of the forearm. The disorder is associated with a large spectrum of preaxial abnormalities. It is shown that the thumb and preaxial carpal bones are almost always hypoplastic or absent in almost all types of radial longitudinal deficiency. Congenital dislocation of the dysplastic radial head may accompany this rare deformity. Herein, we present a 20-year-old male patient with radial longitudinal deficiency who had a markedly hypoplastic radius but had a thumb and carpal bones with normal size, shape, and joint relations. Further, the right radial longitudinal deficiency of our patient was unusually accompanied by left congenital radial head dislocation. Our case shows that, although rare, radial longitudinal deficiency can present without any carpal and thumb abnormalities. And the current case also shows that a contralateral sided congenital radial head dislocation may accompany radial longitudinal deficiency.
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spelling pubmed-71550022020-04-17 An unusual phenotype of radial longitudinal deficiency (radial hemimelia) presenting in a young adult male()()() Özdemir, Meltem Kavak, Rasime P. Akdağ, Mehmet Güven, Selda Radiol Case Rep Musculoskeletal Radial longitudinal deficiency is a rare skeletal anomaly characterized by a defect in the development of structures that form the radial half of the forearm. The disorder is associated with a large spectrum of preaxial abnormalities. It is shown that the thumb and preaxial carpal bones are almost always hypoplastic or absent in almost all types of radial longitudinal deficiency. Congenital dislocation of the dysplastic radial head may accompany this rare deformity. Herein, we present a 20-year-old male patient with radial longitudinal deficiency who had a markedly hypoplastic radius but had a thumb and carpal bones with normal size, shape, and joint relations. Further, the right radial longitudinal deficiency of our patient was unusually accompanied by left congenital radial head dislocation. Our case shows that, although rare, radial longitudinal deficiency can present without any carpal and thumb abnormalities. And the current case also shows that a contralateral sided congenital radial head dislocation may accompany radial longitudinal deficiency. Elsevier 2020-04-10 /pmc/articles/PMC7155002/ /pubmed/32308776 http://dx.doi.org/10.1016/j.radcr.2020.02.023 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Musculoskeletal
Özdemir, Meltem
Kavak, Rasime P.
Akdağ, Mehmet
Güven, Selda
An unusual phenotype of radial longitudinal deficiency (radial hemimelia) presenting in a young adult male()()()
title An unusual phenotype of radial longitudinal deficiency (radial hemimelia) presenting in a young adult male()()()
title_full An unusual phenotype of radial longitudinal deficiency (radial hemimelia) presenting in a young adult male()()()
title_fullStr An unusual phenotype of radial longitudinal deficiency (radial hemimelia) presenting in a young adult male()()()
title_full_unstemmed An unusual phenotype of radial longitudinal deficiency (radial hemimelia) presenting in a young adult male()()()
title_short An unusual phenotype of radial longitudinal deficiency (radial hemimelia) presenting in a young adult male()()()
title_sort unusual phenotype of radial longitudinal deficiency (radial hemimelia) presenting in a young adult male()()()
topic Musculoskeletal
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155002/
https://www.ncbi.nlm.nih.gov/pubmed/32308776
http://dx.doi.org/10.1016/j.radcr.2020.02.023
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