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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Main Authors:	Marina de França, MD, Maria de Fátima de Faria Soares, MD, MSc, Ana Luiza Pilla Luce, MD, MSc, Eduardo Perrone, MD, MSc
Format:	Article
Language:	English
Published:	Elsevier 2020-12-01
Series:	Radiology Case Reports
Subjects:	Schmid metaphyseal chondrodysplasia Skeletal dysplasia Short stature genu varum
Online Access:	http://www.sciencedirect.com/science/article/pii/S193004332030399X

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spelling	doaj-7aa778e07e77424c9ee8866e5f1a3a472020-11-25T03:38:42ZengElsevierRadiology Case Reports1930-04332020-12-01151225542556Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosisMarina de França, MD0Maria de Fátima de Faria Soares, MD, MSc1Ana Luiza Pilla Luce, MD, MSc2Eduardo Perrone, MD, MSc3Department of Medical Genetics, Federal University of Sao Paulo, Sao Paulo, Brazil; Corresponding author.Department of Radiology, Federal University of Sao Paulo, Sao Paulo, BrazilDepartment of Medical Genetics, Federal University of Sao Paulo, Sao Paulo, BrazilDepartment of Medical Genetics, Federal University of Sao Paulo, Sao Paulo, BrazilSchmid 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.http://www.sciencedirect.com/science/article/pii/S193004332030399XSchmid metaphyseal chondrodysplasiaSkeletal dysplasiaShort staturegenu varum
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Marina de França, MD Maria de Fátima de Faria Soares, MD, MSc Ana Luiza Pilla Luce, MD, MSc Eduardo Perrone, MD, MSc
spellingShingle	Marina de França, MD Maria de Fátima de Faria Soares, MD, MSc Ana Luiza Pilla Luce, MD, MSc Eduardo Perrone, MD, MSc Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis Radiology Case Reports Schmid metaphyseal chondrodysplasia Skeletal dysplasia Short stature genu varum
author_facet	Marina de França, MD Maria de Fátima de Faria Soares, MD, MSc Ana Luiza Pilla Luce, MD, MSc Eduardo Perrone, MD, MSc
author_sort	Marina de França, MD
title	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_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_sort	schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
publisher	Elsevier
series	Radiology Case Reports
issn	1930-0433
publishDate	2020-12-01
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.
topic	Schmid metaphyseal chondrodysplasia Skeletal dysplasia Short stature genu varum
url	http://www.sciencedirect.com/science/article/pii/S193004332030399X
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Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis

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