Possible BWS

[Lettiecookies]

Hello,

My 6 month old daughter has some of the symptoms of BWS and I just want to see what you guys think before I schedule her to see her pediatrician. She has been in the 99th percentile for length since her 3 month checkup. The dr said she is physically and cognitively at the level of a 9 month old. Her weight is consistently in the 60s. She has one posterior helical ear pit that occasionally gets flaky skin around it, creases under her eyes (infraorbital creases) and a large strawberry hemangioma on one of her arms that grew until a few weeks ago. It seems to be receding now. She has no other birth marks, other than a mild stork bite on the back of her neck. My husband was born with one across his eye that remains in adulthood. Her fontanelles are normal and are closing properly.

Her birth weight and height were in the 50th percentile and she was normoglycemic. She has an average sized tongue, but had a mild tongue tie that was corrected. No clefts. She has had significant GI upset I thought was due to my milk oversupply (similar to lactose intolerance-green frothy stools, crying, very gassy-resolved once solids started) and is being treated for reflux (silent), but we weren't told of any hernias. She always was and is still breastfed. I'm not sure if this is significant, but she is half black a quarter white (German, Irish, Scottish, Norwegian), and a quarter middle eastern. We have no history of childhood cancer or disease on either side. I did have pituitary Cushing's disease in late childhood, but I'm told that isn't genetic and my adrenal glands were not affected. My husband has sarcoidosis, also dx'd in late childhood/early adulthood.

I was curious about her ear pit and hit up Dr. Google to find all of this info on BWS and nothing really on benign posterior ear pits. My husband was adopted, but said his biological brother has a preauricular ear pit that oozes. She has a booster shot due for flu vaccine in 2 weeks and I intend to ask her ped about this then unless your responses indicate that I should pursue this urgently and make an appointment specifically to discuss this. I am anticipating that her dr will know little to nothing about BWS, so I would appreciate any info you can provide. Please also address what the diagnostic process is like and if there are other things she should be tested for.

Thank you so much!

Colette's mom

PS-sorry if this is a duplicate. It's also posted in "questions".

[Kellperkk]

You might want to join the beckwith Weidemann support group on Facebook. There are a couple thousand really active parents on there that might be able to give you feedback. My daughter had a lot more markers so it was pretty evident.

[Songbird63 Administrator BWS Support]

BWS used to be diagnosed clinically if the child had two or more major signs ...see "what is BWS?" on our website page (bws-support.org.uk). She only seems to have one major sign with the ear pits, as Macrosomia is generally height AND weight over 90%. However, there is now a genetic test for BWS so that may be worth talking to your paediatrician about. Your paediatrician should advise on what other tests may be appropriate for her other issues.

[Lettiecookies]

Ok. I will talk to her ped. Thanks very much.