Health Medical Medical Imaging Genetic Disorders
Eric Tung
Eric Tung

@EricTungMD

10 Tweets 11 reads Jun 22, 2023
Twitter
Diagnosing skeletal dysplasias by XR is challenging given the large number of dysplasias (>400) and their rarity. How comfortable do you feel dx them? Let’s improve together by reviewing a stepwise approach to dx & πŸ”‘points from an article by Handa et al.!
#RGphx #PedsRad
1/10
Diagnosing skeletal dysplasias by XR is challenging given the large number of dysplasias (>400) a...
Skeletal dysplasias are disorders of bone & cartilage that can be organized into families based on common genetic abnormalities producing characteristic patterns of skeletal abnormalities. Recognize the pattern of findings --> narrow the ddx
#RGphx #PedsRad
2/10
Skeletal dysplasias are disorders of bone & cartilage that can be organized into families based...
πŸ”‘2: Recognize pathognomonic findings for skeletal dysplasia families!
-Osteoporosis + bowing + fx = osteogenesis imperfecta fam
-Punctate calc = Punctata fam
-Sclerosis = Osteopetrosis/focal sclerosing dysplasia
-Undermodeling + bowing = Otopalatodigital fam
#RGphx #PedsRad
3/10
πŸ”‘2: Recognize pathognomonic findings for skeletal dysplasia families! -Osteoporosis + bowing + fx =...
πŸ”‘3: Have a systematic approach to every case!
a) Describe skeletal abnl
b) Identify family pattern w/ best fit (e.g., pathognomonic findings? +/- spinal involvement?)
c) Scrutinize abnl to try to make specific dx (e.g., finding severity, unique features)
#RGphx #PedsRad
4/10
πŸ”‘3: Have a systematic approach to every case! a) Describe skeletal abnl b) Identify family pattern w...
Let’s practice these πŸ”‘ points with couple unknown cases from the paper by Handa et al.
Take a look at this case. What are the findings? Does the pattern fit a specific skeletal dysplasia family? Can you make the diagnosis?
#RGphx #PedsRad
5/10
Let’s practice these πŸ”‘ points with couple unknown cases from the paper by Handa et al. Take a look...
Case 1:
a) Findings: flared iliac wings, overconstricted distal ilia, constricted prox femora, hooked vert bodies w/ central tongue, prox metacarp pointing, bullet phalanges
b) Family: Dysostosis Multiplex
c) Dx: Morquio disease (central tongue is suggestive)
#RGphx #PedsRad
6/10
Case 1: a) Findings: flared iliac wings, overconstricted distal ilia, constricted prox femora, hooke...
What about this case? What are the skeletal abnormalities? What skeletal dysplasia family is the best fit for this constellation of findings?
#RGphx #PedsRad
7/10
What about this case? What are the skeletal abnormalities? What skeletal dysplasia family is the bes...
Case 2:
a) Findings: undermodeling & bowing of long bones, wavy ribs, thoracic lordosis, abnl patterning of short tubular bones of feet
b) Pattern: Otopalatodigital syndrome (undermodeling + bowing = pathognomonic)
c) Dx: Otopalatogigital syndrome type 2
#RGphx #PedsRad
8/10
Case 2: a) Findings: undermodeling & bowing of long bones, wavy ribs, thoracic lordosis, abnl pa...
Final πŸ”‘: Know what geneticists care about from rad report!
⭐️ What is most likely dx based on findings?
⭐️ Do findings fit with detected genetic variant? (may be several candidate variants)
⭐️ Do findings not fit previously reported family? (e.g., new dx!)
#RGphx #PedsRad
9/10
Thanks for following along! There is a lot more to learn about skeletal dysplasia families. Check out the full #RadioGraphics manuscript, which is the source of all images in this #Tweetorial: tinyurl.com
@Radiographics @cookyscan1 @elriedesel
#RGphx #PedsRad
10/10
tinyurl.com/2xpavrey

Categories

Health Medical Medical Imaging Genetic Disorders

Some tweets missing

Loading suggestions...