My son was diagnosed with Noonan's yesterday. He is three months
old (11 pounds, 22.5 inches, head circumerference of 39.3 cent) He
passed hearing, eye, and skeletal tests with no anamolies noted.
Still, our geneticist says our son is an open book. So far, he
seems to be meeting milestones.
My concern is the appearance of his head. It seems very small to
me, although the doctors assure me he is not microcephalic and that
its appearance is likely a result of the cystic hygroma that
resolved in utero. Can anyone give me insight into how the
appearance of noonan babies changes over time? Will his head get
bigger? His face seems to be in the lower half of his head. Will
it grow? His ears are low set, but the doctor says they are within
normal range. They are small and flat to his skull right now.
Also, any insight anyone can offer regarding how my husband and I
should proceed with our son would be helpful. He is going to go
through a battery of tests (endocrine, hematology, and cardiac) to
make sure he is okay. What else should we look for? How soon
should we start with a developmental pediatrician?
Any insights would be greatly appreciated.
By the way, we know our son has a missence on protein 308 of the
ptpn11 gene.