The participant was born at 37 weeks weighing 3lbs 13oz. He spent 19 days in the NICU due to feeding difficulties. He began to experience recurrent upper and lower respiratory tract infections at 6 months and was later identified to have abnormal movement of the cilia (abnormal ciliary motility), upper … read more
During pregnancy, the participant was found to have poor growth (intrauterine growth restriction) and there was more amniotic fluid than normal (polyhydramnios). After birth, he had trouble breathing and low Apgar scores. He was found to have multiple skeletal anomalies (metaphyseal widening, tibial and fibular bowing, cervical spinal canal stenosis) … read more
The participant’s parents became concerned with his development when he was about 3-4 years old. At this time, his speech was delayed and he was learning a bit slower than other children in school. He was able to graduate from high school, but had difficulty with college level work. Otherwise … read more
