Early in life the participant was very healthy with the exception of frequent ear infections and right sided hearing impairment (unilateral sensorineural hearing loss). At age 12, his parents began to notice that he was not growing taller like his peers and he was diagnosed with growth hormone deficiency and … read more
The participant was first seen in a genetics clinic at 11 months old because of facial differences (high arched eyebrow, abnormal face shape) and skull differences (metopic craniosynostosis). He was found to have some other physical differences such as one eye turned inward (esotropia), palate abnormalities, split uvula (bifid uvula) … read more
At 10 months of age, the participant was found to have low muscle tone (hypotonia) and developmental delay. He said his first words at 9 months and has added vocabulary slowly over the years. According to his speech therapist, he has a diagnosis of dysarthria. He began walking at 28 … read more
