Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2

We described a novel de novo missense variant of the gene encoding Collagen alpha‐2(V) chain, associated with the classical Ehlers–Danlos syndrome (cEDS) (OMIM#130010), in a 14‐year‐old patient who presented with congenital and severe scoliosis, muscle hypotonia, ocular manifestations, and no atroph...

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Detalles Bibliográficos
Autores principales: Foy, Malika, de Mazancourt, Philippe, Bremond Gignac, Dominique, Gillas, Fabrice, Trigui, Nawel, Mekki, Ahmed, Carlier, Robert, Benistan, Karelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703103/
https://www.ncbi.nlm.nih.gov/pubmed/36447672
http://dx.doi.org/10.1002/ccr3.6338
Descripción
Sumario:We described a novel de novo missense variant of the gene encoding Collagen alpha‐2(V) chain, associated with the classical Ehlers–Danlos syndrome (cEDS) (OMIM#130010), in a 14‐year‐old patient who presented with congenital and severe scoliosis, muscle hypotonia, ocular manifestations, and no atrophic scaring. This case expands the phenotypic spectrum of cEDS.

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