During the first year of her life, the patient was developing normally, but was delayed in crawling and babbling. At a year and a half, her mother noticed that she did not interact with other people and would mostly focus on objects and dirt. At age 2, she was diagnosed … read more
At six weeks of age, the participant was noticed to have a twisted neck (torticollis) and skull abnormality (plagiocephaly). These were treated with physical and helmet therapy. Soon after, she was diagnosed with low muscle tone (hypotonia) and developmental delay. When the participant was one year old, she received a … read more
The patient was born with a cleft lip, cleft palate, atrial septal defect, skeletal abnormalities, and absent thymus with severe T-cell deficiency. At 6 months, he underwent a thymus transplant and was diagnosed with complete DiGeorge syndrome. He later developed inflammation of the thyroid gland with hypothyroidism, followed by hyperthyroidism. … read more
