Am J Med Genet A 2020 09 11;182(9):2110-2116. Epub 2020 Jul 11.
Division of Orthogenetics, Nemours/A.I. duPont Hospital for Children, Wilmington, Delaware, USA.
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. Read More