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.
If this participant sounds like you or someone you know, please contact us!
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