Growth in individuals with Saul-Wilson syndrome.

ABSTRACT: Saul-Wilson syndrome (SWS) is a rare autosomal recessive disorder characterized by microcephalic primordial dwarfism, spondyloepimetaphyseal dysplasia, characteristic facial findings, clubfoot, brachydactyly, bilateral cataracts, and hearing loss. Recently, recurrent mutations in COG4, encoding a component of the Conserved Oligomeric Golgi (COG) complex, were identified. We created detailed growth curves for stature, weight, and head circumference, as well as weight-for-length and weight velocity charts for younger children, derived from hundreds of data points obtained by retrospective chart review from 14 individuals with molecularly-confirmed SWS. In addition, we performed statistical comparisons of height-for-age model fits before and after initiation of growth hormone supplementation,

SUBMITTER: Ferreira CR 

PROVIDER: S-EPMC9016779 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature