Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis

Schmid metaphyseal chondrodysplasia is a rare genetic cause of skeletal dysplasia. Patients usually present skeletal abnormalities but no major visceral malformations or intellectual disability. We report a case of a 2-year-old male patient with short stature, progressive genu varum, and waddling ga...

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Detalles Bibliográficos
Autores principales: de França, Marina, de Faria Soares, Maria de Fátima, Luce, Ana Luiza Pilla, Perrone, Eduardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553887/
https://www.ncbi.nlm.nih.gov/pubmed/33082897
http://dx.doi.org/10.1016/j.radcr.2020.08.005
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author de França, Marina
de Faria Soares, Maria de Fátima
Luce, Ana Luiza Pilla
Perrone, Eduardo
author_facet de França, Marina
de Faria Soares, Maria de Fátima
Luce, Ana Luiza Pilla
Perrone, Eduardo
author_sort de França, Marina
collection PubMed
description Schmid metaphyseal chondrodysplasia is a rare genetic cause of skeletal dysplasia. Patients usually present skeletal abnormalities but no major visceral malformations or intellectual disability. We report a case of a 2-year-old male patient with short stature, progressive genu varum, and waddling gait. Radiographic findings were essential to guide investigation and molecular confirmation, allowing proper treatment and genetic counseling.
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spelling pubmed-75538872020-10-19 Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis de França, Marina de Faria Soares, Maria de Fátima Luce, Ana Luiza Pilla Perrone, Eduardo Radiol Case Rep Case Report Schmid metaphyseal chondrodysplasia is a rare genetic cause of skeletal dysplasia. Patients usually present skeletal abnormalities but no major visceral malformations or intellectual disability. We report a case of a 2-year-old male patient with short stature, progressive genu varum, and waddling gait. Radiographic findings were essential to guide investigation and molecular confirmation, allowing proper treatment and genetic counseling. Elsevier 2020-10-07 /pmc/articles/PMC7553887/ /pubmed/33082897 http://dx.doi.org/10.1016/j.radcr.2020.08.005 Text en © 2020 The Authors. Published by Elsevier Inc. on behalf of University of Washington. 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 Case Report
de França, Marina
de Faria Soares, Maria de Fátima
Luce, Ana Luiza Pilla
Perrone, Eduardo
Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
title Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
title_full Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
title_fullStr Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
title_full_unstemmed Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
title_short Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
title_sort schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553887/
https://www.ncbi.nlm.nih.gov/pubmed/33082897
http://dx.doi.org/10.1016/j.radcr.2020.08.005
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