Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis.

ABSTRACT:

Background

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by extraskeletal heterotopic ossification. It is well recognized that FOP can lead to a devastating condition of disability. However, the mortality rate of FOP patients in China and risk factors for mortality are still largely unclear.

Methods

We conducted a retrospective research on a cohort of 65 cases of FOP patients in China from 2008 to 2018. We reviewed medical records of these FOP patients to retrieve information such as date of birth/death, gender, clinical features, genotypes and biochemical parameters and analyze the correlation of these parameters with the mortality.

Results

92.3% (60/65 cases) patients were classic FOP patients, 3.1% (2/65 cases) were FOP

SUBMITTER: She D 

PROVIDER: S-EPMC7060591 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature