Thursday, March 27, 2014

BWS - Other physical features

There are a number of other physical features that are common in kids with BWS.  These include:

Ear creases - Many kids with BWS have ear creases or pits.  In fact, this is so common it's even one of the signs used in diagnosing a patient.  A patient with BWS may also present with low set ears.  Here are some pictures of Micaelyn and Elianna's ears to demonstrate the ear creases and pits.  Note, however, it's not easy to get good pictures to show these features, especially on a 2 year old, so they are a bit difficult to see in the photos.
Creases on the backside of Elianna's ears (some of them are hidden by my thumb, but you can see some to the left of my thumb in the area of her ear lobe)
You can see a crease on Elianna's ear lobe (there is a single hair running over it).  Micaelyn has more noticeable creases in her ear lobe, but her ear piercing hides them pretty well.

Creases on the backside of Micaelyn's ears (look above her earring).

A preauricular ear pit on Micaelyn's ear (look near the center of the photograph for the reddish colored dot, there are a few stray pieces of hair near it with one just barely touching the pit)

Prominent Occiput - The back part of the head is known as the occipital region, so a prominent occiput means the back part of the head is more prominent than it should be.  This is is only mildly noticeable in Elianna but very noticeable in Micaelyn.  It is most noticeable when washing her hair as the back of her head bulges outward much more than normal so it feels different than the shape of my other kids' heads.  The good thing is her long hair obscures the shape of the back of her head so it's doubtful anyone will ever notice it.

Nevus Flammeus - This is a red birthmark, also called a stork bite, that most often occurs between the eyebrows but can also appear on the eyelids or other parts of the face.  It usually fades within the first few years of life.  They also appear regularly on kids without any genetic syndrome (our son Caleb had one on each of his eyelids) so don't worry if your kid had one!

Since we didn't get Micaelyn until she was 3 1/2 years old and these marks usually fade within the first couple of years we really weren't expecting to see one on Micaelyn, especially with her darker skin.  Nonetheless one was still visible between her eyebrows.

An enlarged copy of the same picture.  She was 5 years old in this picture, and even today (at 7 years old) in the right lighting the mark is still visible so obviously hers is one that didn't completely fade within the first few years.

Epicanthal folds - Epicanthal folds of the eyes are sometimes seen in kids with BWS.  They are also seen in kids with Down syndrome, and this combined with the enlarged/protruding tongue and mid-face hypoplasia common with both syndromes (and also the pot-bellied appearance caused by abdominal hernia and/or diastasis recti (abdominal muscle separation) seen with both BWS and Down syndrome) may be the reason why so many babies with BWS are mistaken to have Down syndrome (this is occasionally brought up on the BWS groups).  Both of our daughters with BWS would have epicanthal folds even without BWS due to their ethnicity, but admittedly when we first saw Micaelyn she did remind us of a child with Down syndrome (Today I'm sure she would never be mistaken for a kid with Down syndrome - it's usually just very young kids with BWS that are mistaken to have Down syndrome.).
Our second day with Micaelyn just after we completed her adoption, 3 years old.
Other Orthopedic Issues - In being a part of a worldwide group of families affected by BWS one comes to realize there are many more issues faced by kids with BWS than the ones listed as the common features.  It seems orthopedic issues are more common among these kids than among most kids.  Micaelyn was born with a club foot on her right side, and interestingly enough Elianna's right foot also turns inward.  At this point it's not severe enough for us to correct it, but we will continue to monitor it as she grows.
It's not her whole leg that turns inward, only her foot.
Her foot always turns inward like this, even when standing.  It's noticeable when she walks also.

No comments: