A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis.
Eur J Med Genet
; 68: 104924, 2024 Apr.
Article
en En
| MEDLINE
| ID: mdl-38355094
ABSTRACT
Diaphanospondylodysostosis is a rare genetic skeletal disorder caused by biallelic variants in the BMPER gene. The term, diaphanospondylodysostosis, includes ischiospinal dysotosis, which was previously known as a distinct entity with milder clinical features. The clinical phenotype of diaphanospondylodysostosis is quite variable with mortality in early postnatal life in some patients. Main clinical and radiographic features are narrow thorax, vertebral segmentation defects, rib anomalies, ossification defects of vertebrae, ischium and sacrum, and renal cysts. In this study, we report on a 14-year-old girl patient with diaphanospondylodysostosis harbouring a novel BMPER mutation. The patient presented with severe scoliosis and severely hypoplastic/aplastic distal phalanges of the fingers and toes, findings yet hitherto not described in this syndrome.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
/
Costillas
/
Escoliosis
/
Columna Vertebral
/
Anomalías Craneofaciales
/
Disostosis
Tipo de estudio:
Etiology_studies
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Países Bajos