The participant had growth delay before and after birth, and was referred to genetics by his primary care provider at the age of 3 due to concerns of developmental delay and autism. Currently he is receiving behavioral therapy. He also has distinctive facial features, including full cheeks, downturned corners of … read more
The participant was born full-term through a C-section. Shortly after returning home from the hospital, he began having gastrointestinal-related issues. He was diagnosed with reflux (GERD) and had difficulty with feeding, though these issues were resolved with the use of a specialty baby formula. The participant also had regular constipation … read more
The patient was born early at 35 weeks, but only spent one day in the neonatal intensive care unit (NICU). At about 9 months of age, the patient’s parents started having concerns because he was not meeting his developmental milestones. Although he continues to make steady progress, the patient has … read more
