Metopic Craniosynostosis

If you just said to yourself, "What in the world is that?" You're not alone.

Our baby boy Max was born with an oddly shaped head. No big deal, we thought. Most babies have oddly shaped heads at birth, especially after being molded during their journey through the birth canal. He also had a nuchal cord, meaning his cord was wrapped around his neck three times, (and no, its not as big of an emergency as those birth shows always make it out to be- our midwife just unwrapped him as he came out,) so we thought that the unusual molding was because he wasn't able to tuck his chin before he was born, so his forehead flattened instead.

By his third day, I started noticing a bony ridge along the middle of his forehead. I thought it was the way the molding was reshaping itself. Still, we weren't worried. By the time he was four weeks old, he still had the ridge along his forehead. We decided it was probably smart to get him into a doctor, just to get things checked out, thinking that the worst thing that we would be told was that he would need one of those skull-shaper type helmets when he got to be a little older.

I took him to a family practice doc here in town. It seemed just like a normal check up at first. Then the Doctor started getting quiet, and looking at Max pretty closely. He started talking with me about things he saw that we concerning, but it wasn't until he mentioned the words "genetic consult" that my heart jumped into my throat. He said he noticed a lot of "soft signs" that may or may not be pointing to a genetic problem, one of which was the ridge along his forehead. He mentioned that Max has closely set eyes, low set ears, a recessed, small chin, and dimples on his shoulders. He also has a dimple at the base of his spine. He basically said that all of these things could add up to something, or it could all just be a coincidence. He couldn't tell me what he thought it might be, or what we should do about it other than get a consult with a geneticist.

I was stunned. A Genetics consult is something you never imagine being referred to with your newborn baby. That's a big scary specialty. Its not like going to see an ear nose and throat doctor, a pediatrician, or even more scary ones like a cardiologist. I heard "geneticist" and immediately thought major handicaps, or a short lifetime filled with health problems. I was a big, slobbery mess for the next few days. All I could do was nurse my baby and think about how perfect I thought he was.

We got a referral to the genetics clinic for the first part of January, but my husband was insitent that we get a second opinion. It felt to both of us that the first Doctor wasn't really sure what he was talking about, and that maybe it wasn't as big of a deal as he was making it out ot be. Tom had received good recommendations for a pediatrician that works is the same building he does. So, a few days before Christmas, we packed up the kids and headed to the Doctor's office.

She was the first to mention the diagnosis of metopic craniosynostosis. And in case you wanted something even harder to say, its also called triganocephaly. http://averycranio.googlepages.com/home is a really good site with explanations, diagrams, and a story of a little boy who has the same condition. Apparently, metopic craniosynostosis is quite rare, in fact, our pediatrician had never seen a case of it. She had to get a textbook out to show us what it was and to read to us about it.

(As a sidenote, we do "rare" really well here at our house. I have pseudotumor cerebri- a neurological condition that affect 1 in 100,00 people. I had a baby in a car, which happens once in avery 300-400 births. And metopic craniosynostosis occurs in one in about 40,000 births. If only we could take these odds and play them in Vegas!)

She also advised us to proceed with the genetics consult. Along with that, she ordered a sacral ultrasound to see whether or not the dimple was closed and to rule out spinal cord tethering, and an xray to confirm the craniosynostosis. Since we had to head down to Primary Childrens Hospital, we were glad to get all of the appointments on the same day.

The first piece of good news for that day was that the sacral dimple was closed and there was no spinal cord tethering. Big sigh of relief there- an open dimple could have meant more surgery, spina bifida, or other neuro-muscular problems. We then went for the x-ray. Everyone was very kind, and we were done quickly with a minimum amount of fuss. Then it was on to the genetics lab. We talked with a resident first, and the most amusing thing about the whole appointment was how appalled she was at pictures of Max's birth. (They ask you to bring in pictures so they can see the development of the child they are examining.) I brought a full body shot of when he was first born, and his umbilical cord was still attached to him, and to his placenta. She was considerably disturbed by this- telling mye about all the dangers of increased hematocrit levels. I smiled to myself, told her that there was no study that showed increased risk of polycythemia (and felt very smart saying that word out loud.)

The geneticist was quite kind and knowledgable. The good news was that he didn't feel that the craniosynostosis was related to any of the scarier syndromes that it is sometimes a marker for. He said that there were some things about Max that may or may not be markers for something genetic, but right now, he's thinking that they are mostly related to the skull bones fusing prematurely, and that many of those issues may be resolved with surgery. Max is gaining weight really well- in fact, he has doubled his birthweight in 2 months!- and that is a big sign that htings are going okay. The words the doc used were "cautiously optimistic." I can deal with that. He referred us to the cranio-facial surgeons, and as long as Max keeps doing well and meeting his milestones, we don't have to go back until Max in nine months old.

So the next step is surgery. Sigh. I can't meet with the craniofacial surgeon for a couple of weeks, so we don't know for sure when it will happen, but we know it needs to happen. Its a fairly involved procedure, and requires a minimum 5-day hospital stay, and they like to do it before the baby is six months old so that their brain can continue to grow. It seems overwhelming to me- the idea of putting my infant through a major surgery that involves a neurosurgeon and a craniofacial surgeon. Everyone keeps reassuring me that he'll bounce back fast, and that the surgeons do wonderful work, but I keep thinking of things like giving my baby to the nurses to take to the operating room, shaving his little head for the operation etc. Must not think about it too much...