Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis.
Radiol Case Rep
; 15(12): 2554-2556, 2020 Dec.
Article
em En
| MEDLINE
| ID: mdl-33082897
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Guideline
Idioma:
En
Revista:
Radiol Case Rep
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Brasil