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SN undiagnosed genetic conditions

It's Pete robin

2 replies

Kimmi29th · 28/02/2019 17:40

Hi guys i am struggling with my son and was wondering my son went in hospital with bronchitis and the doctor said her thought he had Pete robin and sent of f or genetic tests it has came back it's not genetic but they do want to see him still does this mean he can still have this thanks for reading

OP posts:
Lougle · 28/02/2019 17:56

Hi Kimmi29th Pierre Robin is the name given to a collection of features, which together form a syndrome, but currently only 40% of people with PR seem to have a known gene mutation, apparently. So if the doctor is saying that your DS has Pierre Robin Syndrome, they'll be doing that based on their clinical examination of your DS's mouth/face/airways.

Hopefully, the follow up appointments you have will make things a bit clearer for you. Has your DS recovered now?

FlibbertyGiblets · 28/02/2019 18:00

Pierre Robin Syndrome can be the inherited type (called syndromic) or non-inherited type (called isolated).
See what the consultants say.

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