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Chromosomal problem?

(67 Posts)
mummybear1003 Sun 24-Jul-16 00:28:45

My son was born 3 weeks early via emergency c section due to a heart problem (aortic stenosis) and we were told yesterday that this can have some links with certain chromosomal problems, the dr also mentioned our sons large forehead, a dimple in the base of his spine, slightly wide set eyes and seemed to focus on his low set ears. We have a several week wait until we get his blood results back and find out for sure but has anyone got any ideas/ experience on if they think my son has any issues? He was a late smiler (12 weeks) and hasn't met any other real milestones yet that I'm aware of and is now 4.5 months, he had surgery at 12 days and will have a second opp in the next month or so. I have attached some pictures incase anyone can pick up on some trade mark physical features, thanks in advance.

flutterby77 Sun 24-Jul-16 01:29:42

I can't help you identify the potential issue but hope you get answers soon. My son has a chromosome defect causing issues with growth (russell silver syndrome) which wasn't identified until he was 18 months old as he has very mild physical characteristics of the syndrome. There are often overlaps of physical characteristics with chromosome issues and some of your son's are familiar (large forehead, sacral dimple) but probably related to something else.

Jinxysbaby Sun 24-Jul-16 01:39:08

Ur son looks perfect to me, good luck x

lljkk Sun 24-Jul-16 06:41:16

Sorry this is a worry for you. He is gorgeous, btw.

With rare chromosome disorders they don't have a distinctive look, iyswim. because they are rare. That also means it's hard to predict what the chromosome variation means, how the person is affected. How long do you have to wait for the blood test result?

Is he using his hands to grab stuff yet?

mummybear1003 Sun 24-Jul-16 06:48:50

Thank you, I agree that he's gorgeous! He doesn't grab toys which I hold infront of him, but he holds his own hands together if that's similar?

mummybear1003 Sun 24-Jul-16 06:49:38

Thank you, I agree that he's gorgeous! He doesn't grab toys which I hold infront of him, but he holds his own hands together if that's similar?

lljkk Sun 24-Jul-16 08:23:00

So he's looking at his hands, he knows those hand things are under his control?

mummybear1003 Sun 24-Jul-16 10:37:22

Yeah he started staring at them a few weeks ago and clasping them together a week or so after that

lljkk Sun 24-Jul-16 21:34:32

Well then he's met that milestone too (finding his hands). smile
Try not to worry. x

minipie Mon 25-Jul-16 10:43:15

Hi, just to say my DD was tested at birth for Downs due to the same facial features - low nasal bridge, wide set almond shape eyes, and she has a sacral dimple as well (didn't realise that was a chromosomal symptom till this thread though!) Actually she looked quite a lot like your DS - gorgeous smile. All came back clear.

We then went through the same thing and had the same tests for DD2! All clear again. Clearly just the way DH and my babies look.

Does he have a slightly lopsided mouth or is that just how you are holding him?

Hope all comes back clear for you.

mummybear1003 Mon 25-Jul-16 11:34:50

Just how I'm holding him! I am sure he'll be fine, apparently it's routine testing anyway when they have the heart problem he has but still slightly worried with them pointing features out that I thought were normal!!
I honestly think his eyes are exactly like his dad's and he certainly hasn't got any health problems!

minipie Mon 25-Jul-16 11:42:54

thought so smile

Yep DD looks just like her dad too. in fact the consultant (she had a consultant due to being prem) said after the tests "oh actually she looks a lot like you doesn't she" - wish he'd looked before the tests!

sevent Mon 25-Jul-16 11:50:28

Williams syndrome is associated with heart defects and facial features like broad forehead and a long philtrum (groove in middle of the upper lip). I'm sure it's nothing though OP, although I know that doesn't help. I thought DS2 looked like he had features of downs when he was a baby but he doesn't.

mummybear1003 Mon 25-Jul-16 12:46:35

sevent, I have just googled Willian's syndrome and although I can't see it myself as to me he just looks like him can you see the features there? I saw something about stellate eye patterns, I've put a picture of my sons eyes up as once again I don't know what I'm looking for!

sevent Mon 25-Jul-16 13:28:44

I am not an expert, so wouldn't like to offer an opinion, it only popped into my head because a friend of mine has a little boy with Williams so when you mentioned heart problems and facial features that was what I thought of. I wasn't assessing his appearance or anything like that.

clare2307 Thu 28-Jul-16 11:06:20

My daughter doesn't have any heart problems (or not that we know of!) but she is quite delayed in her development. She is 10.5 months but assessed at approx 6 months developmentally and she is getting bloods taken to check her chromosomes. It's very hard to know if they are delayed at 4.5 months as really they aren't expected to do a massive amount by that age but great your DS has found his hands. It was at 8 months we got her referred as she wasn't sitting unaided (and still isn't!) and her fine motor skills are poor, she doesn't babble or turn to noises - she still likes to looks at and clasp her hands over playing with toys, although there has been an improvement with that recently. It's very hard not knowing and the wait for results seems like forever but try not to worry too much (much easier said than done but I am trying not to worry too much until we have and actual diagnosis something is wrong!) PS - you little boy is gorgeous 😃

mummybear1003 Thu 28-Jul-16 12:14:33

Thank you Clare2307, I'm not too worried, even if he has something 'not right' he's still perfect to me, and it'll just be how he's meant to be.

cestlavielife Thu 28-Jul-16 17:00:54

aw he is gorgeous...wait for the blood tests did they say they are doing the full microarray ?
my ds has microdeletion on chrom 17. when you get the results if it does show something check with Unique
www.rarechromo.co.uk/html/home.asp

in any case get him assessed for physio and speech and language as soon as poss. no harm in getting early intervention, if it turns out he doesnt need it then all well and good.

HHH3 Thu 28-Jul-16 21:30:09

Can I come and join you? Waiting on genetic test results for DS2 who's 3.7 at the mo. I've always known there's something different about him but it's only relatively recently I've been listened to.

The geneticist pointed about a load of physical things about him - some I already knew, some I didn't. Some of the ones I didn't know I actually struggle to see - he's just my gorgeous DS to mesmile

CoteDAzur Thu 28-Jul-16 22:01:37

He is gorgeous smile

Was he a floppy baby? Perhaps born with a club foot?

When he smiles, is it a huge gummy smile or a little one?

mummybear1003 Thu 28-Jul-16 22:06:46

Never floppy, able to support himself on his feet within days (obviously if I held him!), his feet are gorgeous and normal, and about the smile I'm not sure? I've attached a picture so you can see for yourself. Why? What are you thinking? Ps: don't worry about panicking me! He's my son whatever and I love him exactly how he is!!

QOD Thu 28-Jul-16 22:13:52

My Dn has mild ehler Danlos with similar features. Has had heart surgery, trigger thumbs release, drooping eyelids, discoloured skin patch, her cartilage hasn't hardened in her ears or nose. She is very double jointed of course but luckily no dislocations to date
Intellectually nt

QOD Thu 28-Jul-16 22:14:41

Oh and Dn toes - totally 'wiggly' !!

All stuck in different directions when she was teeny

ASAS Thu 28-Jul-16 22:16:25

Oh my, that little face! Perfection.

sorry for totally unhelpful response

CoteDAzur Thu 28-Jul-16 22:18:45

There is a type of muscular dystrophy that presents with low-set ears, weakness of facial muscles (not smiling or weak smiles) and general floppiness, but it doesn't sound like your DS has it smile I hope you get favourable results soon.

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