What is the 2nd most lethal form of skeletal dysplasia?
Achondrogenesis
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The skeletal dysplasia that may cause blue sclera
Osteogenesis imperfecta
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An Amish woman, age 21 G5P4, presents to the ultrasound department for her 20 week anatomy scan. The sonographer discovers the fetus has shortened limbs, an extra digit on the left hand, and cardiac defects. What dysplasia is this?
EVC
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Skeletal dysplasia associated with advanced paternal age
Achondroplasia
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At an 18-week anatomy, scan the sonographer discovers the fetus has extreme rhizomelia, curved femurs, champagne cork abd, and a cloverleaf skull. Most likely diagnosis
Type 1 thanatophoric dysplasia
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Associated with SOX9 gene
camptomelic dysplasia
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If I have a short humerus, but normal radius and ulna, my limbs are said to be ________
rhizomelia
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Associated with decreased thoracic circumference and polydactyly
Short rib polydactyly syndrome
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Trident hand is associated with
Achondroplasia
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Autosomal dominant, associated with the FGFR3 gene