Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
Am J Med Genet A
; 194(8): e63601, 2024 08.
Article
en En
| MEDLINE
| ID: mdl-38562122
ABSTRACT
Biallelic variants in RSPRY1 have been found to result in spondyloepimetaphyseal dysplasia. Two siblings presenting with short stature, facial dysmorphism, progressive vertebral defects, small epiphysis, cupping and fraying of metaphyses, brachydactyly, and short metatarsals harbored a homozygous missense variant c.1652G>A;p.(Cys551Tyr) in the RSPRY1 gene. The phenotype in our patients resembles spondyloepimetaphyseal dysplasia, Faden-Alkuraya type. Thus, our study provides further evidence to support the association of RSPRY1 variants with spondyloepimetaphyseal dysplasia. We observed joint dislocation as a novel clinical feature of this condition.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
/
Fenotipo
/
Hermanos
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
India