PEDIATRIC Section 13: MSK (Skeletal Dysplasia/Dwarfs)

Question 1

Short fingers

Answer 1

Brachydactyly

Question 2

Too Many Fingers

Answer 2

Polydactyly

Question 3

Two or More Fused Fingers
(“Sock hand” - I call it)

Answer 3

Syndactyly

• Sock - Syn

Question 4

Contractures of Fingers

Answer 4

Camptodactyly

Question 5

Radially Angulated Fingers (Usually 5th)

Answer 5

Clinodactyly

Question 6

Long, Spider-Like Fingers

Answer 6

Arachnodactyly

Question 7

Limb is Absent

Answer 7

Amelia

Question 8

Limb is mostly Absent

Answer 8

Meromelia

Question 9

Hands / Feet (distal limbs) are Short

Answer 9

Acromelic

Question 10

Forearm or Lower Leg are short (middle limbs)

Answer 10

Mesomelic

Question 11

Femur or Humerus (proximal limbs) are short

Answer 11

Rhizomelic

Question 12

Short All Over

Answer 12

Micromelic

Question 13

This is the most common skeletal dysplasia, and is the mostly likely to be seen at the mall (or on television)

Answer 13

Achondroplasia

Question 14

Fibroblast growth factor receptor proble (FGFR)

Answer 14

Achondroplasia

Question 15

Achondroplasia

Answer 15

Rhizomelic (short femur, short humerus)
Big head
Trident hands (3rd and 4th fingers are long)
Narrowing of teh interpedicular distance
Tombstone pelvis

Question 16

Most common LETHAL dwarfism

Answer 16

Thanatotrophic

Question 17

Rhizomelic shortening (humerus, femur)

Answer 17

Thanatotrophic

Question 18

“telephone receiver” femurs

Answer 18

Thanatotrophic

Question 19

The vertebral bones are flat (platyspondyly), and the skull can be cloverleaf shaped.

Answer 19

Thanatotrophic

Question 20

“Bell shaped thorax” with short ribs

Answer 20

Asphyxiating Thoracic Dystrophy (Jeune)

Question 21

Difference between a Thanatotrophic dwarf from a dead Jeune dwarf?

Answer 21

Vertebral bodies

Jeune bodies = normal

thanatrotrophic = flat

Question 22

Dwarf with multiple fingers

Answer 22

Ellis-Van Crevald

Question 23

is this weird thing not present at birth, and spares the skull.

Answer 23

Pseudoachondroplasia

Question 24

Dwarft + osteopetrosis + wiide angledjaw + Acro-osteolysis.

Answer 24

Pyknodystostosis

Question 25

When you say Rhizo, think of

Answer 25

humerus + Femur

Question 26

When you say Acro, think of

Answer 26

Hands + Feet

Question 27

When you say meso, think of

Answer 27

Forearm, tibia/fibula

Question 28

Most dwarfs have this

Answer 28

Rhizomelic, if forced to choose, always guess this

Question 29

What happen to peddicles in achondroplasia as it desends the spinal colon?

Answer 29

They narrow Normal pedicles are supposed to widen

Question 30

Live dwarf + short femurs/humerus + narrow pedicles =

Answer 30

Achrondroplasia

Question 31

This is your main dead dwarf + telephone receive femur + cloverleaf head =

Answer 31

Thanatrotrophics

Question 32

A dead dwarF + short ribs

Answer 32

Jeune