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A rare case of limb deficiency syndrome: Gollop WolfGang syndrome
Limb deficiency disorders are rare, etiologically heterogeneous skeletal dysplasias that occur as an isolated anomaly or as a part of a syndrome. The term limb deficiency incorporates both absence and size reduction of any of the 120 human limb bones, with around 205 identified abnormalities. Congen...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8203590/ https://www.ncbi.nlm.nih.gov/pubmed/34158891 http://dx.doi.org/10.1016/j.radcr.2021.05.025 |
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author | Hapani, Ronak Shastri, Mona |
author_facet | Hapani, Ronak Shastri, Mona |
author_sort | Hapani, Ronak |
collection | PubMed |
description | Limb deficiency disorders are rare, etiologically heterogeneous skeletal dysplasias that occur as an isolated anomaly or as a part of a syndrome. The term limb deficiency incorporates both absence and size reduction of any of the 120 human limb bones, with around 205 identified abnormalities. Congenital absence of tibia is a rare and severe lower limb malformation with an incidence of approximately 1:1,000,000 live births. Absence of tibia with ectrodactyly (lobster claw deformity) or tibial hemimelia with split hand/foot malformation (TH-SHFM) or Gollop-Wolfgang complex is a rarer malformation with highly variable manifestations. |
format | Online Article Text |
id | pubmed-8203590 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-82035902021-06-21 A rare case of limb deficiency syndrome: Gollop WolfGang syndrome Hapani, Ronak Shastri, Mona Radiol Case Rep Case Report Limb deficiency disorders are rare, etiologically heterogeneous skeletal dysplasias that occur as an isolated anomaly or as a part of a syndrome. The term limb deficiency incorporates both absence and size reduction of any of the 120 human limb bones, with around 205 identified abnormalities. Congenital absence of tibia is a rare and severe lower limb malformation with an incidence of approximately 1:1,000,000 live births. Absence of tibia with ectrodactyly (lobster claw deformity) or tibial hemimelia with split hand/foot malformation (TH-SHFM) or Gollop-Wolfgang complex is a rarer malformation with highly variable manifestations. Elsevier 2021-06-08 /pmc/articles/PMC8203590/ /pubmed/34158891 http://dx.doi.org/10.1016/j.radcr.2021.05.025 Text en © 2021 The Authors. Published by Elsevier Inc. on behalf of University of Washington. https://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 | Case Report Hapani, Ronak Shastri, Mona A rare case of limb deficiency syndrome: Gollop WolfGang syndrome |
title | A rare case of limb deficiency syndrome: Gollop WolfGang syndrome |
title_full | A rare case of limb deficiency syndrome: Gollop WolfGang syndrome |
title_fullStr | A rare case of limb deficiency syndrome: Gollop WolfGang syndrome |
title_full_unstemmed | A rare case of limb deficiency syndrome: Gollop WolfGang syndrome |
title_short | A rare case of limb deficiency syndrome: Gollop WolfGang syndrome |
title_sort | rare case of limb deficiency syndrome: gollop wolfgang syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8203590/ https://www.ncbi.nlm.nih.gov/pubmed/34158891 http://dx.doi.org/10.1016/j.radcr.2021.05.025 |
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