The participant was born after a pregnancy complicated by insulin-controlled gestational diabetes, reduced fetal movement, and polyhydramnios. Soon after birth, she was noted to have low muscle tone (hypotonia) and dysmorphic features. She struggled with feeding from birth and was notably irritable as a baby. At 5 months old, she … read more
The patient was born early at 35 weeks. During the first few months of her life, she had multiple episodes of “turning blue” (cyanotic episodes) and was diagnosed with many upper respiratory and ear infections. She also had bronchitis and pneumonia several times. Around age 6, she started to complain … read more
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
