Aug 17, 2018
The participant has multiple congenital anomalies including narrow nasal passageway (choanal stenosis), brain and spinal cord abnormalities (Chiari 1 malformation, syrinx), two-vessel short cord, eye abnormalities (right eye microphthalmia with coloboma), and heart defects (bicuspid aortic arch, hypoplasia of the aortic arch). Just after her second birthday, her parents noticed she had short stature; this is being treated with a growth hormone. She does not have any cognitive impairments.
If this participant sounds like you or someone you know, please contact us!
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