Male, age 4, with global developmental delay, low muscle tone of the trunk (hypotonia), seizures, a history of clubbed feet (bilateral talipes equinovarus), and head turned persistently to the right (torticollis)
Jan 22, 2021
The participant was born prematurely at 31 weeks gestation. At birth, he was noted to have clubbed feet (bilateral talipes equinovarus) which were successfully cast. He received his nutrients through an NG (nasogastric) tube. He was discharged from the NICU after 6 weeks.
At 3 months of age, the participant became increasingly fussy. It was noticed that his back was arching, he usually kept his head tilted to the left (torticollis), and his eyes weren’t working together well.
At 10 months old, the participant’s reflux was successfully managed with Prilosec. At this time, short lingual and labial frenulum release procedures were performed in order to improve bottle feeding.
At 12 months of age, the participant was found to have global developmental delay. At this point, he was not rolling consistently, sitting up, or responding to his name. It was noted that his head was large in comparison to his body (relative macrocephaly).
At 23 months, the participant was able to sit unsupported but still could not pull himself up or crawl. He was also babbling and using a few words. His head doesn’t turn to the right (torticollis) as frequently, and his eye coordination has improved. He began crawling around 2.5 years old and started walking around 3.5 years.
Clinicians and researchers are investigating the following de novo genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
