Skeletal Dysplasias Flashcards Preview

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Flashcards in Skeletal Dysplasias Deck (20):
1

COMP Mutations

Pseudoacrhondroplasia and MED

Proteoglycan accumulation in cartilage causing destruction at a young age

2

What is unique about Pseudo-achondroplasia

pseudo cannot be diagnosed until the ages of 2 and 3, because they have normal facies

otherwise they develop the body type... just not the face

3

Proportionate dwarfisms

MED

4

to dx MED, get this xray

Standing bilateral lower extremity, full length

5

Type II Collagen Mutation Diseases

Kniest, SED

6

If you see: AA insability, kyphoscoliosis, odontoid hypoplasia, platyspondyly, coxa vara, hearing loss, retinal detachment... think:

SED Congenita

7

If you see: kyphoscoliosis, AA instablity, dumbbell shaped femurs, clef palate, tracheomalacia... think

Kniest

8

Sulfate Transporter Gene Mutation

Diastrophic Dysplasia

9

If you see: rhizomelic shortening, cervical kyphosis or scoliosis, hitchiker thumbs, cauliflower ears, severe club feet... think:

Diastrophic dysplasia

10

CBFA-1 mutation

cleidocranial dysplasia, the mutant prevents osteoblast differentiation which affects intramembranous bone formation

11

PTH-PTHrP mutation

Jansen metaphyseal dysplasia
associated with hypercalcemia

12

An Autosomal Dominant Type X Collagen Mutation:

Schmid Metaphyseal Dysplasia
mild
coxa vara
genu valgum

13

Mutant to EVC Gene

Ellis-van Creveld
- chondroectrodermal dysplasia
- acromesomelic shortening
- teeth/nail dysplasia
- genu valgum
- CARDIAC abnormalities
- post axial polydactyly

14

SHOX Gene Mutation

Leri-Weil Dyschondrosis
- Madelung deformity
- Mild short stature
- Mesomelic

15

All mucopolysaccharidoses are autosomal recessive, except for:

HUNTER's
- X-linked recessive

16

Mutation of Galactosamine-6-sulfate sulphatase:

Morquio Type A

17

What lab tests do you get for Morquio?

Keratan sulfate in the urine. Do UA.

18

Dysplasias Identifiable at Birth:

- achondroplasia
-SED congenita
- kniest
- Diastrophic dysplasia
- Thanatophoric

...anything characteristic in the face

19

Dysplasia identifiable in childhood

- metaphyseal dysplasias
- SED tarda
- Pseudo achon
- Mucopolysaccharidoses

20

Larsen's Syndrome

abnormal facial features, ligamentous laxity, multiple joint dislocations
- hips
- knees
- shoulders
- elbows
- cervical kyphosis + myelopathy