During pregnancy, the mother of the participant developed a kidney infection that was treated with antibiotics and painkillers. Ultrasounds revealed that the participant’s legs were hyperextended at the knee, his feet were by his face, and his arms were to the side. After birth, he had trouble feeding and was … read more
The participant began to experience tremors at 4 months and concerns were raised for global developmental delay when she failed to meet developmental milestones. Early in life, she had episodic fevers, frequently requiring hospitalization, and staring spells thought to be seizures (absence seizures). After evaluation by neurology, she had 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
