Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations.

ABSTRACT:

Objective

Roberts syndrome (RBS), also known as Roberts-SC phocomelia syndrome, is a rare autosomal recessive developmental disorder caused by mutations in the ESCO2 gene. Cardinal clinical manifestations are pre- and postnatal growth retardation and craniofacial and limb malformations. Here, we report RBS in a Chinese adolescent with novel biallelic ESCO2 variations and complex cerebrovascular diseases.

Methods

Medical history, neurological examinations, neuroimaging, and pathology were collected in the proband and the family. Whole exome sequencing (WES) with copy number variation analysis was performed to screen for genetic variations.

Results

The clinical features of the proband were craniofacial and limb malformations together with complex cerebrovascular disease

SUBMITTER: He S 

PROVIDER: S-EPMC10265053 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature