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17 Cards in this Set

  • Front
  • Back

CFBA 1 gene

Clienocranial dysphasia 

CC dysplasia Gene product

Osteocalcin 

CC dysplasia manifestation besides absent clavicles

Coxa vara (surgery if greater than 100 degrees)

MED is disproportionate or proportionate 

Disproportionate

MED spine involvement or not

No spine involvement

MED gene defect

COMP lack of type two collagen

MED angular deformities are seen where?

Knees valgus leads to early oa

SED what Gene, disproportionate or proportionate

COL2a, proportionate 

SED cervical spine involvement

Odontoid hypoplasia

DD dysplasia Gene and chromosome, disproportionate or proportionate

Sulfate transporter chromosome 5, disproportionate 

DD urgent surgical issue

Cervical kyphosis leading to quad

Achondroplasia Gene, spine?, which zone in cartilage 

Fgfr3, spinal stenosis, zone of proliferation

Hurlers enzyme and product

Alpha l iduronidase and dermatin sulfate 

San flippo 

Heparan sulfate

Morquio, urgent surgical issue, product, knees? 

Keratin sulfate, Odontoid hypoplasia, genu valgum

Larsen syndrome urgent issues, phenotype, gene

Cervical kyphosis and multiple dislocated joints, wide set eyes/cleft palate, filamin

Aperts 

Fgfr2