At 6 months, the patient was not sitting or rolling and was found to have low muscle tone (hypotonia). Over time, his hypotonia has become more noticeable and currently he is unable to stand or walk. He has also developed involuntary muscle contractions (dystonia) and problems with coordination (ataxia). The … read more
26 weeks into the pregnancy, the participant was found to have intrauterine growth restriction (IUGR). She was born early at 34 weeks weighing 3 pounds and was fed through a G-tube as an infant. As she has grown up, she continues to be very small for her age and gaining … read more
At birth, the participant had trouble feeding due to low muscle tone (muscle hypotonia) and difficulty swallowing (dysphagia), which required gastrostomy tube (G-tube) feeding until 3 months of age. While hospitalized as a newborn, a skeletal survey was performed, which revealed low bone density (osteopenia) and a bone fracture. An … read more
