Week 9: Forum/Discussion Board

 
 
Picture of Hailey Indelicato
Re: Fetal Skeleton
by Hailey Indelicato - Monday, 1 March 2021, 9:05 PM
 

Hello everyone!

I decided to do osteogenesis imperfecta. It's a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta means "imperfect bone formation" People with this condition have bones that break or fracture easily, often from mild trauma or with no apparent cause. In this first image, it shows a comparison between the normal femur, this image shows good ossification and we know this by the shadowing thats present and no bowing with a good length. Compared to the image above that which shows type 1 osteogenesis imperfecta with bowing and it doesn't show the good ossification we see in normal. 

There 8 types:

Type 1: Mildest and most common type. About 50% of all affected children have this type. There are few fractures and deformities

Type 2: Most severe type. A baby has very short arms and legs, a small chest, and soft skull. They may be born with fractured bones. They may also have a low birth weight and lungs that are not well developed. A baby with type II usually dies within weeks of birth

Type 3: Most severe type in babies who don’t die as newborns. At birth, a baby may have slightly shorter arms and legs than normal and arm, leg, and rib fractures. A baby may also have a larger than normal head, a triangle-shaped face, a deformed chest and spine, and breathing and swallowing problems. These symptoms are different in each baby

Type 4: Symptoms are between mild and severe. A baby with type IV may be diagnosed at birth. They may not have any fractures until crawling or walking. The bones of the arms and legs may not be straight. He or she may not grow normally.

Type 5:  Similar to type IV. Symptoms may be medium to severe. It is common to have enlarged thickened areas (hypertrophic calluses) in the areas where large bones are fractured

Type 6: Very rare. Symptoms are medium. Similar to type IV

Type7: May be like type IV or type II. It is common to have shorter than normal height. Also common to have shorter than normal upper arm and thighbones. 

Type 8: Similar to types II and III. Very soft bones and severe growth problems.

Osteogenesis Imperfecta Osteogenesis imperfecta (dr. mahesh)

https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta

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Picture of Brittany Lopes
Re: Fetal Skeleton
by Brittany Lopes - Tuesday, 2 March 2021, 8:40 AM
 

Hi Hailey!

Osteogenesis imperfecta is such a sad anomaly. It breaks my heart to think of the fetus constantly fracturing a new part of its body.

I actually first learned about this condition through Grey's Anatomy and it really helped me remember it! In the show, one couple is having an ultrasound on their baby and the doctor doing the scan finds that the baby seems to be sitting cross legged. The parents thought this was cute and noted that their baby was doing this on their last ultrasound. They referred to the baby as their "little Buddha" because of his positioning.

However, this raised a red flag for the doctor, as it should for us as well. The baby had been in this position for a long time and didn't show signs of moving. This led to more tests which found that the baby did in fact have osteogenesis imperfecta. The baby was likely not just sitting cross legged but actually had broken legs and couldn't move them. :(

This reminded me how important it is to check the previous exams and images for comparison. We need to watch for cases like this where the baby isn't showing signs of movement, or their bones seem oddly positioned, as they could be fractured.

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Picture of Hailey Indelicato
Re: Fetal Skeleton
by Hailey Indelicato - Tuesday, 2 March 2021, 9:11 PM
 

Oh my gosh Brittany! I'm going to have to look that episode up! but yes it is extremely sad. We really have to make sure we notice these things and not get stuck on just visualizing one thing like the heart like Dr. Wilson said. I remember her saying if you find an anomaly that's great, but don't get stuck on it and dismiss the rest of the fetal body, there can be multiple issue going on. History is so incredibly important! this reminds me of a time in clinic where my CI told me to go start a pelvic exam. I'm not told any history usually (which sucks) so I go head and start and I'm looking for the uterus forever! Eventually my CI comes in and she says "so when was your uterus removed" I was pissed to say the least LOL! instead of searching forever I should have gotten my own history and asked the patient if she had any prior surgeries. Ive learned my lesson!

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Picture of Brittany Lopes
Re: Fetal Skeleton
by Brittany Lopes - Wednesday, 3 March 2021, 8:50 AM
 

Aww I bet that was frustrating!

History is definitely super important. I think the timing of asking for history is also a key factor. Like Dr. Wilson said, it's usually best to ask about patient / family history before even setting the probe on the patient. This way they don't think you're asking these questions because you see a certain pathology during the scan. 

I'm also a bit curious about the cultural aspect of certain skeletal dysplasias, like dwarfism for example. The most common type of dwarfism is rhizomelic dwarfism and it results from achondroplasia. While this genetic disorder may be upsetting for us to find as sonographers, I wonder if it wouldn't be this way for the parents if they also have dwarfism. To them it may be exciting to have a child that looks like them.

I experienced this situation when I was learning sign language in high school and engaging with the Deaf community. Many of the Deaf parents explained that they had Deaf children as well, and while their doctors were upset, they were actually thrilled! The parents saw it as a unique difference, and even went as far as to call deafness a blessing.

These cultural aspects may be something we have to look out for and learn to navigate when we see certain pathologies.

 

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Picture of Chrishawna Porter
Re: Fetal Skeleton
by Chrishawna Porter - Tuesday, 2 March 2021, 1:17 PM
 

Hi Hailey,

I love how in depth your posting is, you already sound like an expert on this topic!:)

The first OB exam I ever observed the baby had a femur that looked exactly like the picture you shared (image D). We didn’t know it at the time, but it turns out the patient had a previous pregnancy where the baby also had skeletal dysplasia, so the report said mom was not surprised that this baby had it too!

I am wondering how the condition compares to brittle bones where patients present with bone weakness and are easily broken?

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Picture of Hailey Indelicato
Re: Fetal Skeleton
by Hailey Indelicato - Wednesday, 3 March 2021, 6:45 PM
 

LOL definitely not an expert! there was just so much to learn when I was researching it. That's so crazy that you saw that and really good exposure! I can't wait to start doing OB, I was just telling a tech today that I wish we did more of it. I'm not sure I totally understand the question lol I looked up conditions that causes weak bones and osteoporosis and osteopenia came up. I think brittle and weak bones are in the same category though. 

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Picture of Candee Lam
Re: Fetal Skeleton
by Candee Lam - Tuesday, 2 March 2021, 7:09 PM
 

Hi Hailey

Very interesting post, know we talked about osteogenesis imperfecta but it didn't occur to me that it would look like this on ultrasound. I was wondering if it had to do with the composition of the bones and whether the  mother took folic acid during her pregnancy. I also wonder if this affects whether the bones are echogenic or not echogenic. Do you know how osteogenesis imperfecta occurs?

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Picture of Hailey Indelicato
Re: Fetal Skeleton
by Hailey Indelicato - Thursday, 4 March 2021, 6:04 PM
 

Hi Candee,

 I found this article that goes into how OI occurs and it mentions that it's caused by defects in or related to a protein called type 1 collagen, ollagen is an essential building block of the body. The body uses type 1 collagen to make bones strong and to build tendons, ligaments, teeth, and the whites of the eyes. The remaining cases of OI (types VI–XI) are caused by autosomal recessive mutations in any of six genes (SERPINF1, CRTAP, LEPRE1, PPIB, SERPINH1, and FKBP10) that code for proteins that help make collagen. These gene changes are inherited, or passed down from parents to their children; people who have OI are born with it. However, in some cases, the gene mutation is not inherited and occurs after conception.

So it looks like it can be inherited but sometimes not! 

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Picture of Zulema Hernandez
Re: Fetal Skeleton
by Zulema Hernandez - Wednesday, 3 March 2021, 8:12 PM
 

Amazing job on your post Hailey! You did such a great job explaining it. I found this page that goes over an OB case that was found to have osteogenesis imperfecta type II. It has some great images including this one demonstrating the small chest that may be present as you mentioned and also one of shortened and fractured ribs. The clinical history of the patient is as follows:

"We report the case of a planned pregnancy in a healthy 36-year-old woman. There was a prior uncomplicated pregnancy that gave rise to a healthy child. There was no consanguinity, no family history of previous disease. There were no known exposures to any teratogens. Folic acid supplementation was initiated pre-conception." I thought it was great they mentioned she started taking folic acid before conception, since Allison highlighted it's importance in her presentation! 

https://www.eurorad.org/case/13376

Figure n°3Figure n°4

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Picture of Alexis Rojas
Re: Fetal Skeleton
by Alexis Rojas - Thursday, 4 March 2021, 10:06 PM
 

Nice post, Hailey! It is quite interesting how wide the spectrum of severity is for OI. Makes me wonder how many people have the mild form of OI and don't even know it!

I found a YouTube video showing a case of OI (type unspecified), and the limb bones do look segmented. Seeing the discontinuity of the shadowing from the bones really caught my eye. 

Also, below is a short description of some of the sonographic appearances of severe OI in a fetus. Seeing the number of differentials listed also reinforces the sentiment behind this DB. We don't need to determine exactly what condition the baby has (especially because there are around 400 skeletal dysplasia conditions!) - we just need to recognize when something is abnormal and document the best we can. 

 

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Picture of Sarah Swager
Re: Fetal Skeleton
by Sarah Swager - Friday, 5 March 2021, 9:30 PM
 

Hailey,

 

Yikes I bet these poor babies hurt. Here are a few helpful videos on osteogenesis imperfecta!

 

https://www.youtube.com/watch?v=JA5ap43iFrQ  ---This is what OI is. Apparently the severe form can cause hearing loss. I guess that makes since because the mallus, incus, and stapes are bones.

https://www.youtube.com/watch?v=fI5ZRzDIOCk  -----This is a humanized video.

 

 

 

Sarah

 

 

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