Mar 08, 2019
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) as well as too much fluid in the kidneys (hydronephrosis). He was also found to have multiple heart abnormalities (patent ductus arteriosus, patent foramen ovale, dilation of ascending aorta). These resolved spontaneously over time. The participant has also been diagnosed with Alpha-1 antitrypsin deficiency.
The participant has delayed gross and fine motor skills but is able to make sounds and respond to his name.
If this participant sounds like you or someone you know, please contact us!
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