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
Early on in life, the participant had a gastrostomy tube (G tube) placed because she was not growing as expected. Around this time, she was diagnosed with anemia and a high white blood cell count (leukocytosis). Currently she is very short and has pain in her knees and ankles. She … read more
At birth, the participant was noticed to have folded ears (overfolding of the superior helices) and eye abnormalities (retinal coloboma, microphthalmia, strabismus). At 3 months, she began to experience seizures (infantile spasms). Although a ketogenic diet helped the participant become seizure-free for 5 years, the seizures (generalized tonic-clonic, generalized myoclonic, … read more
