Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.

ABSTRACT:

Background

Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births. The typical features are craniosynostosis, proptosis, midfacial hypoplasia, and noncranial manifestations, including deformities in the cervical spine, elbow, and fingers. Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene.

Methods

We reported a three-generation family with Crouzon syndrome; the proband showed extremely severe limb abnormalities. The clinical features were obtained by physical examination and radiographic examination. Sanger sequencing of all 18 exons of FGFR2 was conducted to identify the disease-causing mutation.

Results

The proband was a 4

SUBMITTER: Lin M 

PROVIDER: S-EPMC6732274 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature