Weismann-Netter-Stuhl Syndrome:A family report

Weismann-Netter-Stuhl (WNS) syndrome is a rare skeletal anomaly that affects the diaphyseal part of both the tibiae and fibulae with posterior cortical thickening and anteroposterior bowing. This anomaly is usually bilateral and symmetrical. The patients are generally of short stature. In some cases...

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Detalles Bibliográficos
Autores principales: Alp, Hayrullah, Atabek, Mehmet Emre, Pirgon, Özgür
Formato: Texto
Lenguaje:English
Publicado: Galenos Publishing 2009
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005653/
https://www.ncbi.nlm.nih.gov/pubmed/21274295
http://dx.doi.org/10.4274/jcrpe.v1i4.45
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author Alp, Hayrullah
Atabek, Mehmet Emre
Pirgon, Özgür
author_facet Alp, Hayrullah
Atabek, Mehmet Emre
Pirgon, Özgür
author_sort Alp, Hayrullah
collection PubMed
description Weismann-Netter-Stuhl (WNS) syndrome is a rare skeletal anomaly that affects the diaphyseal part of both the tibiae and fibulae with posterior cortical thickening and anteroposterior bowing. This anomaly is usually bilateral and symmetrical. The patients are generally of short stature. In some cases, a family history suggesting genetic transmission of a mutation with an unknown locus has been reported. In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. Similar clinical findings were defined in three other family members. Conflict of interest:None declared.
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spelling pubmed-30056532011-01-27 Weismann-Netter-Stuhl Syndrome:A family report Alp, Hayrullah Atabek, Mehmet Emre Pirgon, Özgür J Clin Res Pediatr Endocrinol Case Reports Weismann-Netter-Stuhl (WNS) syndrome is a rare skeletal anomaly that affects the diaphyseal part of both the tibiae and fibulae with posterior cortical thickening and anteroposterior bowing. This anomaly is usually bilateral and symmetrical. The patients are generally of short stature. In some cases, a family history suggesting genetic transmission of a mutation with an unknown locus has been reported. In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. Similar clinical findings were defined in three other family members. Conflict of interest:None declared. Galenos Publishing 2009-06 2010-12-08 /pmc/articles/PMC3005653/ /pubmed/21274295 http://dx.doi.org/10.4274/jcrpe.v1i4.45 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Alp, Hayrullah
Atabek, Mehmet Emre
Pirgon, Özgür
Weismann-Netter-Stuhl Syndrome:A family report
title Weismann-Netter-Stuhl Syndrome:A family report
title_full Weismann-Netter-Stuhl Syndrome:A family report
title_fullStr Weismann-Netter-Stuhl Syndrome:A family report
title_full_unstemmed Weismann-Netter-Stuhl Syndrome:A family report
title_short Weismann-Netter-Stuhl Syndrome:A family report
title_sort weismann-netter-stuhl syndrome:a family report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005653/
https://www.ncbi.nlm.nih.gov/pubmed/21274295
http://dx.doi.org/10.4274/jcrpe.v1i4.45
work_keys_str_mv AT alphayrullah weismannnetterstuhlsyndromeafamilyreport
AT atabekmehmetemre weismannnetterstuhlsyndromeafamilyreport
AT pirgonozgur weismannnetterstuhlsyndromeafamilyreport

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