Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects congenital heart defects and intellectual disability

摘要

Facial phenotypes from patients with de novo variants in (patients 1–6, 8, and 9) and from patient K and L, who were identified with a de novo deletion on 15q14. Numbers or letters in the left upper corner refer to the patient numbering in Tables  and . Although facial phenotypes are variable and no clinically recognizable facial gestalt can be delineated, some recurrent features were noticeable, including thin, arched eyebrows, a metopic ridge, a thin vermillion, and short alae nasi. The bottom row shows evolution of facial features with age in patient K (from the age of 8 months to the age of 28 years). Note the thin, arched, and laterally displaced eyebrows, thin upper lip and broad nasal root and tip with short alae nasi, as well as facial coarsening with age