Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.

ABSTRACT:

Objective

Faciocraniosynostoses (FCS) are malformations affecting the development of the bones of the skull and face, due to the premature closure of one or more craniofacial sutures, mostly secondary to activating Fibroblast Growth Factor Receptor (FGFR) 1-3 mutations. Gain-of-function FGFR3 mutations are also responsible for various conditions referred to as osteochondrodysplasia (OCD), characterized by structural and functional abnormalities of growth plate cartilages. We hypothesized that patients with FGFR-related faciocraniosynostoses may present extra-cranial growth anomalies.

Study design

We retrospectively collected height and weight data from a cohort of 70 patients. Included patients were admitted for FGFR-related FCS between 200

SUBMITTER: Ea C 

PROVIDER: S-EPMC8965158 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature