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Jouberts Syndrome


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Hi all, our friends have a 5 month old preemie, (who I nursed in our NICU) with Jouberts Syndrome. Her main feature at the moment is the constant apnoeas. Apart from that, she was a preemie, is behind in milestones etc. Just wondering if anyone has come across Jouberts??? Maybe older kiddos with the syndrome? How do they fare, whats their prognosis?

Would be eternally grateful for some feedback, as we are so involved with this family and their beautiful baby!

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  • 10 months later...

Hi

Just noticed this post

I am a student nurse but was previously special needs teacher

I thought a little girl with jouberts while there.

Im not sure if this is the kind of info your looking for and i don't really have the medical vocabulary to describe her condition but I can tell you that she was a very bright little girl and despite all her medical problems a very happy little girl.

She is now in her teens and is awaiting a kidney transplant - there have been many occasions throughout her life when we all thought that she was going to go but she is incredibly resilient and has always bounced back.

I hope that this info has some use for you.

Dee

xxx

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  • 9 months later...
Guest yabental

בס"ד

We had two babies with Joubert - one baby girl is now 5 years old - a very happy girl with outstanding devoted parents, but many neurological problems, the otherone - a boy that passed away at the age of 6 month - SIDS - but might have been an apnea.

One of the main issues is family consultation due to tha fact that this can be an autosomal recessive disease. There is a group in Italy working on the genetics of the disease. Prenatal or preimplantation diagnosis is possible if the genetics are known. Both of our families are diagnosed.

Hope this helps

Yoram Bental M.D.

NICU

Laniado Hospital

Israel

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