Patient 1
Patient 1 was discharged from NICU at 12 weeks of age with a G-tube and tracheostomy. Dioxide was discontinued prior to discharge with no further episodes of hypoglycemia. The family moved back to his country of origin but return periodically to continue care with various specialties at Nicklaus Children’s.
Patient 1 is currently 4 years old, has global developmental delay, short stature, is non-ambulatory and continues to be G-tube and tracheostomy dependent. He is currently undergoing endocrine evaluation for concerns of micropenis and persistent cryptorchidism (pending surgery). However, care has been complicated and delayed because of barriers to accessing care.
The patient underwent bilateral Ponseti casting for his bilateral clubfeet with residual equinus and cavus for which he later required bilateral open Achilles lengthenings (2019). However, he was noted to have mild recurrence of bilateral cavus and equinus deformities during his last orthopedic evaluation, for which he is uses full time orthoses. Furthermore, he has reduced range of motion of knees and hips secondary to arthrogryposis and is unable to stand.