SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

ABSTRACT:

Background

Individuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of Pierre Robin sequence. SATB2 encodes a transcription factor thought to play a role in bone remodeling. The primary aim of our study was to systematically review the skeletal manifestations of SATB2-associated syndrome. For this purpose, we performed a non-interventional, multicenter cohort study, from 2017 to 2018. We included 19 patients, 9 females and 10 males ranging in age from 2 to 19 years-old. The following data were collected prospectively for each patient: clinical data, bone markers and calcium and phosphate metabolism parameters, skeletal X-rays and bone mineral density.

Results

Digitiform impressions

SUBMITTER: Mouille M 

PROVIDER: S-EPMC8895909 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature