May 31, 2017
At birth, the patient was found to have joint contractures and a heart defect (atrial septal defect), which did not require surgery. She also had difficulty gaining weight (failure to thrive) and needed a gastrostomy tube (G-tube) for feeding.
Since a young age, the patient has had short stature and tight, thickened skin (lack of skin elasticity). She also has difficulty breathing (restrictive lung disease) and growth hormone deficiency.
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