Aug 10, 2018
The participant was born with a 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!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.