Dear Colleague, Dear Colleague,
I met the young Brice BLANC born on 13.02.2018, 3 and a half years old, referred for supravalvular aortic stenosis in a possible syndromic context. 
Brice is currently the only child of the couple. He has a half-brother on the paternal side and a half-sister on the maternal side, both in good health. There is no consanguinity between the parents. 
On the father's side, he is in good health. In the family, his mother has been followed for esophageal problems and has undergone a bypass. 
On the mother's side, there are no significant family antecedents. 
As for Brice, he was born at term from a pregnancy marked by IUGR and the ultrasound discovery of right pyelocaliceal dilation. 
The delivery occurred spontaneously at 36 weeks and 6 days with a weight of 2 kg 300 and a height of 46 cm. A heart murmur was noted at the maternity discharge. 
The first control echocardiograms were deemed normal. 
The pyelocaliceal dilation was re-evaluated as stable postnatally. There was an episode of pyelonephritis. 
Gradually, a slight delay in psychomotor development appeared, with walking acquired at 25 months and especially a language delay. He has benefited from physiotherapy and psychomotor therapy. 
Only recently was there a new cardiac control, which this time revealed a rather severe aortic valvular stenosis but without impact on the left ventricle. A closer follow-up is therefore planned. 
On examination, he is a very energetic, smiling child, and cooperative during the consultation. 
His height is 94 cm, which is -2 SD, with a weight of 12.5 kg, which is -1.5 SD, and a head circumference of 50 cm at the average. Some particular traits are noted, a straight upper lip, flat feet. Brice understands what is said to him but distorts words a bit and repeats a lot. 
In total, supravalvular aortic stenosis associated with a history of IUGR, pyelocaliceal dilation, and slight learning delays. 
It seems important to me to search for a more general syndrome like Williams syndrome. 
A study by DNA chip (CGH ARRAY) has been initiated to search for chromosomal micro-remodeling and a karyotype. 
I will keep you informed of the results. 
Remaining at your disposal. Best regards.