Oct 29, 2021

The participant was born full-term with multiple congenital anomalies. These included dysmorphic facial features, musculoskeletal anomalies, vision abnormalities (strabismus), and a heart defect (Tetralogy of Fallot). Her heart defect was repaired shortly after birth. As a newborn, she was diagnosed with bilateral sensorineural hearing loss. She also had difficulty eating due to weakened tissue in the walls of the larynx (laryngomalacia) and experienced reflux (GERD). She was given thickened feeds to help with this.

Around age 4, the participant began having absent spells. She then had a normal EEG which ruled out seizures. She has also experienced insomnia, which improved in response to creating a dark environment.

The participant has a history of global developmental delays. She has received physical, occupational, and speech therapies for support. She needs the support of a walker for movement, and can dress herself with some support. She has lost all of her hearing in the right ear and wears a hearing aid in her left ear. Her speech is improving, and she is able to express her wants and needs and have short conversations.

• Musculoskeletal anomalies (short foot, C2/C3 vertebral fusion, appendicular hypotonia, tibial torsion)
• Congenital heart defects (Tetralogy of Fallot, pulmonary insufficiency)
• Craniofacial anomalies (epicanthus, high forehead, prominent nasal bridge, down slanted palpebral fissures, downturned corners of mouth, euryblepharon)
• Delayed speech and language development
• Eye anomalies (strabismus, deeply-set eyes, ptosis)
• Ear anomalies (low-set and posteriorly rotated ears, extra lobe on right ear, prominent antihelix, aplasia of the semicircular canal)
• Bilateral sensorineural hearing loss
• Respiratory anomalies (laryngomalacia, lateral clavicle hook)
• Reflux (GERD)
• Chronic constipation

• Miralax – constipation
• Prevacid, Omeprazole – GERD