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25 Cards in this Set
- Front
- Back
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what are some MSK problems related to Down Syndrome?
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instability at the C1-C2 jcn
scoliosis dislocated hips dislocated patella severe flat feet |
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What is the most common genetic form of non-lethal dwarfism?
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achondroplasia
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what gene is mutated in achondroplasia?
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FGFR3 on Chr 4
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what are some skeletal features seen in achondroplasia?
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Spine: progressive decrease in the distance b/w the pedicles of the lumbar vertebrae
Pelvis: broad and short Head: relatively large w/ prominent forehead Limbs: shortening of limbs |
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Is intramembranous ossification messed up in achondroplasia? How about endochondroal bone formation?
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intramembranous ossification is fine --> head is big
endochondral bone growth is messed up |
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What are projections of bone w/ cartilagenous caps?
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osteochondromas
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what gene on Chr 8 is responsible for some cases of multiple cartilaginous exostoses?
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EXT1
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what is defective in osteogenesis imperfecta?
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type 1 collagen
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what are some signs/sx of osteogenesis imperfecta?
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multiple fractures, scoliosis, short stature
blue sclerae middle ear deafness |
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i say bone infarct you say __
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SCD
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What gene family is mutated in Marfan syndrome?
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Fibrillin
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what is the inheritance of hypophosphatemic Vit D-resistant rickets?
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sex-linked dominant
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what is the pathophys of hypophosphatemic Vit D-resistant rickets?
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faulty renal tubular reabsorption of phosphate
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what are the directions of serum PO4, Ca2+, and Alk Phos in hypophosphatemic Vit D-resistant rickets?
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low serum PO4
normal serum Ca++ high serum alk phos |
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what are pseudotumors and when are they seen?
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slowly enlarging hemorrhages seen in hemophilia
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what is the pathophys of osteopetrosis?
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failure of osteoclast-mediated resorption of the skeleton --> calcified cartilage persists unremodeled
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how do bones of pts w/ osteopetrosis look on x-ray?
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denser than normal
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failure of segmentation of the digits -->
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syndactyly
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which side: postaxial polydactyly? inheritance?
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ulnar side. AD
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which side: preaxial polydactyly? inheritance?
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radial side. spontaneous
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preaxial border of the limb is hypoplastic or absent -->
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radial hemimelia
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what is proximal femoral focal deficiency?
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proximal portion of the femur is hypoplastic or absent
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what is fibular hemimelia?
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longitudinal deficiency of the postaxial border of the leg
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abnormal curvature of the spine -->
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scoliosis
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rotational contracture of the cervical region -->
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torticollis
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