Williams Syndrome and Craniosynostosis Link?

Harding University

I won’t even publicly the speak the web address, not because I think I can keep it from you, but because the address itself is offensive to me.

The article goes on to point out that the school can suspend students for “sexual immorality of any form.”

Bad Baby Names

Thazel is a name I’ve wanted to use for either a boy or a girl. Is that name too weird? It’s a combination of my grandmothers who pasted away just three weeks apart. (Thelma and Hazel)

I’m sure your grandmothers who “pasted away” will be proud…

I really like Freddie Prinze jr. and heard his father was famous and died tragically. What was his name?

I couldn’t resist sharing something else from the same website.

What is craniosynostosis?

Craniosynostosis refers to the early (premature) fusion of the sutures of the bones of the skull.  Premature fusing of the sutures restricts and distorts the growth of the skull. These cranial growth restrictions often results in increased cranial pressure growth which can cause vision problems and impede intellectual development.

Today, the pediatrician informed me that the MRI Freya got had revealed mild craniosynostosis on one side of her head. At first, the doctor said she would send Freya to some specialist at a future date to be determined. Then, she said she would just “keep an eye on it.”

Freya has a flat wort-like birthmark on her head, where a bulge is starting to form.

The condition can cause various disorders, can be caused by various disorders, and can is connected to various disorders; it’s a scary thing for a pediatrician to mention and then say, “But don’t worry too much about it just yet…” (paraphrasing).

Williams Syndrome and Craniosynostosis Link?

Williams syndrome, also known as a contiguous gene syndrome, is characterized by variable stenosis of large vessels, elfin face, short stature, mental retardation, dental malformation, and infantile hypercalcemia (1–3). Most patients have microscopic deletions of chromosome 7q11.23, including the elastin locus (4–6), and are known to have characteristic neurologic features including mental retardation, hyperreflexia, microcephaly, and awkward gait (7). Generally seizures are not characteristic symptoms in patients with Williams syndrome, but recently a few reports noted several cases with Williams syndrome and infantile spasms (8,9). Here we describe a rare case of infantile spasms in an infant with Williams syndrome and craniosynostosis.

This is a link between the condition my sister had mentioned thinking Freya could have when all this started and the condition the doctor mentioned today.

The doctor won’t run the FISH test to rule out Williams Syndrome because, “That’s not something we normally do” as if Freya were right at normal for a baby of her age…To reiterate, I DO NOT want my girls to have problems. I DO, however, want to know IF they have problems.

When Luna had that heart murmur, she saw a cardiologist. It turned out to be a benign heart murmur. I don’t feel like the trip to the specialist was a wasted effort. If she hadn’t gotten it checked and it turned out to be something bad, I’d have felt like she hadn’t gotten the care she needed.

I am going to actively pursue a different doctor for BOTH girls. I was so enamored with this pediatrician at first when she was caring for Luna, but either she’s slipping or she never was a great as I’d thought…

View the full blog at heartchasms.blogspot.com and like the blog on Facebook.

11 thoughts on “Williams Syndrome and Craniosynostosis Link?

  1. I’d definitely find a different doctor if they think this is something to just “keep an eye on”… I know a boy who has this and it’s not fun 😦

  2. I’d definitely find a different doctor if they think this is something to just “keep an eye on”… I know a boy who has this and it’s not fun 😦

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