FGFR2 mutation in a Chinese family with unusual Crouzon syndrome.

ABSTRACT:

Aim

To describe the clinical characteristics with genetic lesions in a Chinese family with Crouzon syndrome.

Methods

All five patients from this family were included and received comprehensive ophthalmic and systemic examinations. Direct sequencing of the FGFR2 gene was employed for mutation identification. Crystal structure analysis was applied to analyze the structural changes associated with the substitution.

Results

All patients presented typical Crouzon features, including short stature, craniosynostosis, mandibular prognathism, shallow orbits with proptosis, and exotropia. Intrafamilial phenotypic diversities were observed. Atrophic optic nerves were exclusively detected in the proband and her son. Cranial magnetic resonance imaging (MRI) implied a cystic

SUBMITTER: Li ZL 

PROVIDER: S-EPMC5075653 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature