Nov 13, 2017
After birth, the patient was found to be in respiratory distress. He had low levels of red blood cells (anemia), yellowing of the skin (jaundice caused by hyperbilirubinemia), and heartburn (gastroesophageal reflux). This required hospitalization in the NICU for 72 days.
Over time, the patient was noticed to have delayed milestones (global developmental delay), walking and talking at approximately 2 years of age. He progressed quickly afterward. However, he still has difficulty walking and currently uses a walker and sometimes a wheelchair. He experiences painful bone cracking and hand, foot, and ankle discomfort when walking.
At the age of 9, he was seen by endocrinology due to increased height and weight despite diet and exercise. Currently, he continues to grow at a fast pace with his clothing and shoe size going up over the span of just a few months.
Clinicians and researchers have identified the following genetic change to be causing the patient’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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