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13 Cards in this Set
- Front
- Back
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Describe OI: type 1
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mildest and mc; fx's start after amb, blue sclera, enlrg'd head for body, deformed limbs, deafness, teeth malformation, bones strengthen after puberty
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Describe OI: type 2
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most severe; fatal before end of utero
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Describe OI: type 3
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severe; multi fx's during/after birth, kyphosis, scoliosis, non-amb, early seal at growth plates => deformed limbs, blue schlera turns white
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Describe OI: type 4
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similar type 1 except normal schlera and dentinogenesis imperfecta present
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Describe OI: type 1
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mildest and mc; fx's start after amb, blue sclera, enlrg'd head for body, deformed limbs, deafness, teeth malformation, bones strengthen after puberty
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OI Tx
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only prevention: prevent and treat fx's, use surgical rods, consider gene therapy
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Describe OI: type 2
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most severe; fatal before end of utero
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Describe OI: type 3
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severe; multi fx's during/after birth, kyphosis, scoliosis, non-amb, early seal at growth plates => deformed limbs, blue schlera turns white
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Describe OI: type 4
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similar type 1 except normal schlera and dentinogenesis imperfecta present
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OI Tx
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only prevention: prevent and treat fx's, use surgical rods, consider gene therapy
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features of achondroplasia
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autosomal dom. abn/ spont chromosomal defect, limbs are disproportionally shorter (1/2 of normal length) to trunk, cognition is normal, total ht<4 ft, prone to spinal stenosis @ young age (25-35 y/o)
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achondroplasia: what causes limbs to be shorter than normal, but all other bones to grow normally
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failure of longitudinal growth in cartilage of epiphyseal plate; it only effects long bones & reg development of all other => avg torso & cranium w/ short extremities
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features of marfans syndrome
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autosomal dom. abn/spont chrom defect; excessive length of limbs; wingspan exceeds ht; sys abn tht affect vision & cv sys
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