
This 8-year-old girl presented with bilateral ptosis, down-slanting palpebral fissures, malar hypoplasia, mild micrognathia, and mild webbing of the neck. She also had marked lumbar lordosis and a dextroconvex thoracic scoliosis with scapular winging. There was a generalized reduction in muscle mass with proximal limb weakness, short stature, diminished deep tendon reflexes, and an awkward waddling gait.

















































































































































































































































































































