AutosomalRecessive Mutations in MESD Cause Osteogenesis ...
Oct 03, 2019 · Clinical and Radiological Features of Individuals with MESD Mutations (1) Individual 1 from Brazil (Family 1 IV5) (1A–1B) Facial dysmorphic features include bluish sclerae, midface hypoplasia, arched eyebrows, tented upper lip; also note tracheostomy, narrow chest, and rhizomelia; posteriorly rotated ears.