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Find out more details about what tests have been done, by downloading the PDF on the right of this text. Please if you have any ideas or suggestions about this unknown syndrome, please get in contact.
He is doing well over all. He is still suffering from pulmonary stenosis and pulmonary hypertention..., which is being monitored closely. He is weeing off the vent well, with. He is growning well, his growth hormone was increased recently because of his growth, he needs the growth hormone to maintain his Glucose levels, and with the hope that it allows him longer rest periods in feeding. He has a Mic Key Peg and is NJ feed 22 hours a day. Other than that he is doing great overall. Is very alert and interactive.
AS OF November 2013 (Latest Update)
Hydrocortisone 2mg TDS
L-Thyroxine 50 - 75 mcg
Genotropin 0.3mg (Growth Hormone)
Lansoprazole 7.5mg
Motilium 2.4 mg
Trimethoprim 13mg
Bosentan 18mg
Galfer 2ml
Sildenafil 15mg

No unifying diagnosis
GLI3 testing is normal, empiric 5-10% recurrence
Karyotype, FISH 22q del normal
Skin biopsy - no mosacism
Genetic Microarray - Normal
Since my son was born in Jan 2012, there has been many developments added to the orginal symtoms first noticed, when he was born. The following problems have been diagnosed or have developed:

Global Developmental Delay
PHTN. Subpulmonary muscular obstruction, PFO (L-R)
PDA Ligation
Obstuctive Sleep Apnea (or BIM) not sure.
Right Thoracic Scoliosis
Eliptical Left Bronchus? Bronchomalacia
Cpap ventilation (Room Air) 5mmHG during day, 10 at night
Appears to be a single testicle ?? Side