Jun 24, 2019
The participant was delivered by C-section because she was in breech presentation. After birth she spent one day in the Neonatal Intensive Care Unit (NICU) because of jaundice and trouble feeding. In the first few weeks of her life, her parents noticed that she had low muscle tone (hypotonia). She was also found to have some differences in her facial features, such as drooping eyelids (ptosis), eye folds (epicanthus), and a smooth area between nose and upper lip (smooth philtrum).
At 4 months old, the participant was noted to have some developmental delays, poor suck, and gastroesophageal reflux (acid reflux). At 10 months, she was found to have breathing issues (apneic episodes), which were determined to not be seizures. Over the next two years she continued to have motor and speech delays. She first crawled at 24 months and was able to hold a bottle at 35 months. The participant is currently nonverbal; however, she has been making some sounds.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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