The participant was born at 33 weeks and stayed in the NICU for three weeks. While in the NICU, she received breathing and nutrition support though a CPAP (Continuous Positive Airway Pressure) machine and NG (nasogastric) tube. She was identified by newborn screening to have very low T-cell lymphocyte levels. … 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
Since infancy, the patient’s height, weight and head circumference have been above the 95th percentile, and X-rays have shown advanced bone age. He had two heart problems (ventricular septal defect, patent ductus arteriosus) that resolved on their own. At age 5, he was diagnosed with weak cartilage in the walls … read more
