Homozygous deletion of exons 2–7 within TGFB3 gene in a child with severe Loeys‐Dietz syndrome and Marfan‐like features

We describe a patient with palatal abnormalities—cleft palate and bifid uvula; distinctive facial features—long and triangular face, large ears and nose, thin lips and dental crowding; musculoskeletal abnormalities—severe scoliosis, joint laxity, long digits, flat feet, decreased muscle mass, and diminished muscle strength; and cardiac features—a dilatated ascending aorta at the level of Valsalva sinuses and a patent foramen ovale. Sequence...