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Skeletal Dysplasia
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Autosomal dominant, associated with the FGFR3 gene
Thanatophoric Dysplasia
Trident hand is associated with
Achondroplasia
Associated with decreased thoracic circumference and polydactyly
Short rib polydactyly syndrome
If I have a short humerus, but normal radius and ulna, my limbs are said to be ________
rhizomelia
Associated with SOX9 gene
camptomelic dysplasia
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
Skeletal dysplasia associated with advanced paternal age
Achondroplasia
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
The skeletal dysplasia that may cause blue sclera
Osteogenesis imperfecta
What is the 2nd most lethal form of skeletal dysplasia?
Achondrogenesis


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