Case report of a girl with NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA (ZMIZ1 related)

We present the case of a six years old girl with the clinical combination of congenital heart defect (Intermediate type atrioventricular septal defect (AVSD)
Total correction surgery at the age of 2 years, -Reconstruction of the left and right AV valves; -Direct closure of the VSD; -Atrial septal defect ostium I ; closure (pericardial patch); -Closure of the PFO; -PDA closure (metal clip) and congenital urinary tract disorder with grade 3 vesicoureteral reflux on both sides and not yet potty trained. Her developmental delay was moderate and muscular weakness which was most likely to be a significant reduction in muscle tone. Other symptoms associated with muscular hypotonia were tent-shaped palate and frequently open mouth; hypermobile joints; and frequent swallowing while drinking.
Additional she had muscular pain symptoms, which increase at night when she exerts her muscles during the day and sometimes require pain medication.
She has made significant progress since starting school. She is attending primary school and enjoys going there. She is doing very well with the schoolwork, participates enthusiastically and shows good concentration skills. She finds it difficult to write continuously, but she takes a short
break and then continues writing. She has an integration assistant.