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Flashcards in Congenital Disorders Deck (93)
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1

_______ are a group of disorders with abnormal bone/cartilage formation & remodeling

Skeletal dysplasias (aka osteochondrodysplasias)

2

Abnormal enchondralbone development =

Achondroplasia

3

Abnormal intramembranous bone development =

Cleidocranial dysplasia

4

Abnormal collagen formation =

Marfan's syndrome

Osteogenesis imperfecta

5

- Osteopoikilosis

- Osteopathia striata

- Osteopetrosis

- Melorheostosis

These are examples of _____

Sclerosing bone dysplasias

6

Disorder of histogenesis =

Neurofibromatosis

7

- Autosomal dominant disturbance in growth and maturity of cartilage basedbone

- Mutation in the fibroblast growth factor receptor-3 gene

Achondroplasia

8

Achondroplasia is associated with _____ limb shortening

Rhizomelic

(Proximal limb shortening)

9

Clinical presentation of ____ includes:

- Recognizable from birth

- Upper extremity more severely affected

- “Large” cranium with prominent forehead and flat nasal bridge

- Waddling gait

- Protuberant abdomen and buttocks

- Neurologic signs and symptoms due to foramen magnum and canal stenosis

Achondroplasia

10

Radiographic findings associated with _____ include:

- Small foramen magnum

- Hydrocephalus

- “Bullet vertebra” common at thorcolumbar junction

- Acute kyphosis

- Posterior vertebral body scalloping

- Increase lumbar lordosis

-Horizontal sacrum

Achondroplasia

11

What is this MRI study demonstrating?

Achondroplasia (Small foramen magnum, canal stenosis)

12

What imaging modality and condition is demonstrated here?

Head CT (Sagittal on left, Coronal on right)

Achondroplasia (Small foramen magnum, hydrocephalus, prominent ventricles)

13

What condition is likely the cause of these findings?

Achondroplasia - Bullet Vertebra

14

What condition is likely the cause of these findings?

Achondroplasia - horizontal sacrum

15

What condition is likely the cause of these findings?

Achondroplasia - Posterior Vertebral body scalloping

16

What condition is likely the cause of these findings?

Achondroplasia - decreasing interpediculate distance

17

What condition is likely the cause of these findings?

Achondroplasia - Champagne Glass

(Squared off ileum, acetabular angle is flat, short thick femoral neck)

18

Middle limb shortening in achondroplasia (tibia/fibula and radius/ulna) =

Mesomelic

19

Shortening of the end of the limb in achondroplasia (hands & feet) = 

Acromelic

20

Shortening of the entire limb in achondroplasia =

Micromelic

21

This is an example of _____ limb shortening in achondroplasia

Rhizomelic

22

This is an example of _____ in achondroplasia

Trident hand (3 digits in middle are same length)

23

Clinical presentations of _____ includes:

- Most often affects skull, clavicle, axial skeleton

- Typically large head and small face

- Shoulders can be approximated

- Drooping shoulders

- Gait abnormalities

- Dentition abnormalities

- Short stature

Cleidocranial Dysplasia

24

Radiographic findings of ____ include:

- Multiple wormian bones

- Delayed closure of fontanelles

- Delayed/Defective dentition (too many or few teeth)

- Midlnie spinal defects (spina bifida occulta)

- Wide symphysis due to delayed ossifcation

- Narrow thorax

Cleidocranial Dysplasia

25

What condition is the likely cause of these findings?

Cleidocranial Dysplasia - Wormian bones (islands of bone)

26

Wormian bones are associated with what two conditions?

Clediocranial dysplasia & Osteogenesis Imperfecta

27

What condition is the likely cause of these findings?

Cleidocranial Dysplasia (Delayed closure of fontanelles + wormian bones)

28

What condition is the likely cause of these findings?

Cleidocranial Dysplasia

(Multiple level spina bifida occulta, midline defect)

29

What condition is the likely cause of these findings?

Cleidocranial Dysplasia (Delayed ossification of pubis)

30

What condition is the likely cause of these findings?

Cleidocranial Dysplasia - Bilateral Hypoplastic (underdeveloped) Clavicle