Cargando…
Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report
INTRODUCTION: Dyggve-Melchior-Clausen (DMC) syndrome was described in 1962 as an autosomal recessive type of spondyloepimetaphyseal dysplasia associated with mental retardation. Dymeclin (DYM) gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain is...
Autores principales: | Yadav, Amit Kumar, Wadia, Farokh, Gawhale, Sangeet, Panchal, Sameer, Talukder, Pritam, Mokashi, Mitali |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Indian Orthopaedic Research Group
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686494/ https://www.ncbi.nlm.nih.gov/pubmed/35004383 http://dx.doi.org/10.13107/jocr.2021.v11.i08.2378 |
Ejemplares similares
-
Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome
por: Kenis, Vladimir, et al.
Publicado: (2011) -
A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome
por: Upadhyay, Ravi, et al.
Publicado: (2022) -
An Extremely Rare Association of Dyggve–Melchior–Clausen Syndrome with Mania: Coincidence or Comorbidity
por: Kar, Sujita Kumar, et al.
Publicado: (2015) -
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
por: Gaboon, Nagwa E. A., et al.
Publicado: (2020) -
A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review
por: Elalaoui, Siham Chafai, et al.
Publicado: (2011)