Fig. 2. Clinical and radiology images show severe scoliosis, dysmorphisms, and dental crowding.

A Clinical photographs without traction (left) and with traction (middle) showing asymmetry of the chest and rib protrusion on the left side. Radiograph of the vertebral column (right) with anteroposterior view in supine position shows a slight left convex curvature of the upper thoracic spine and severe right convex scoliosis of thoracolumbar spine (Cobb’s angle ±75°) with axial rotation (asymmetric projection of spinous processes and pedicles) and asymmetry of the thoracic cavity. B Frontal and C profile facial photographs of the proband (age 19 years), showing a long face with hypotonic appearance, long palpebral fissures, a prominent nose, and small simple ears. The photograph of the mouth (D) shows crowded teeth with gingival hyperplasia (age 21 years). Facial photographs between age 5 months and age 23 years (E), showing a progression of facial dysmorphisms with advancing age. Only mild dysmorphic features are observed in early childhood, including ptosis and a long philtrum (age 5 months to 4 years). However, the proband develops a progressively pronounced long hypotonic face with open mouth (e.g., photographs at 19 versus 10 versus 2 years of age), and has crowded teeth at age 21 (D), whereas teeth appear less crowded at earlier ages (age 7, 13, and 17 years).