Skeletal Dysplasias Flashcards
COMP Mutations
Pseudoacrhondroplasia and MED
Proteoglycan accumulation in cartilage causing destruction at a young age
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
Proportionate dwarfisms
MED
to dx MED, get this xray
Standing bilateral lower extremity, full length
Type II Collagen Mutation Diseases
Kniest, SED
If you see: AA insability, kyphoscoliosis, odontoid hypoplasia, platyspondyly, coxa vara, hearing loss, retinal detachment… think:
SED Congenita
If you see: kyphoscoliosis, AA instablity, dumbbell shaped femurs, clef palate, tracheomalacia… think
Kniest
Sulfate Transporter Gene Mutation
Diastrophic Dysplasia
If you see: rhizomelic shortening, cervical kyphosis or scoliosis, hitchiker thumbs, cauliflower ears, severe club feet… think:
Diastrophic dysplasia
CBFA-1 mutation
cleidocranial dysplasia, the mutant prevents osteoblast differentiation which affects intramembranous bone formation
PTH-PTHrP mutation
Jansen metaphyseal dysplasia
associated with hypercalcemia
An Autosomal Dominant Type X Collagen Mutation:
Schmid Metaphyseal Dysplasia
mild
coxa vara
genu valgum
Mutant to EVC Gene
Ellis-van Creveld
- chondroectrodermal dysplasia
- acromesomelic shortening
- teeth/nail dysplasia
- genu valgum
- CARDIAC abnormalities
- post axial polydactyly
SHOX Gene Mutation
Leri-Weil Dyschondrosis
- Madelung deformity
- Mild short stature
- Mesomelic
All mucopolysaccharidoses are autosomal recessive, except for:
HUNTER’s
- X-linked recessive
