Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation.

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.

Osteogenesis imperfecta, is a genetically and clinically heterogeneous connective tissue disorder that disrupts bone architecture, making it fragile and more prone to fractures. While more than 85% of cases are due to variants in COL1A1 and COL1A2, variants in noncollagen genes have been identified in the remaining cases. The recurring heterozygous variant in IFITM5 (c.

Visuospatial skills and their association with math performance in girls with fragile X or Turner syndrome.

The present study was designed to assess object identification ("what") and location ("where") skills among girls with fragile X or Turner syndrome and girls with neither disorder. Participants completed standardized subtests of visual perception and tasks of visuospatial "what" and "where" memory. Girls with fragile X had average performance on most object identification tasks, yet 53% failed to accurately recreate the gestalt of a design during the "where" memory task.