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13 Cards in this Set

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What is the most common lethal skeletal dysplasia?
Thanatophoric Dysplasia
What skeletal dyasplasia is characteriized by Kleeblattschadel skull?
Thanatophoric Dysplasia
What is Kleeblattshadel?
Cloverleaf skull seen with Thanatophoric dysplasia
Define Micromelia
Shortening of entire extremity
Short limbs
Define Rhizomelia
Shortening of the proximal extremity; i.e. femur, humerus
Define Mesomelia
Shortening of the distal extremity; i.e. Tib/fib or ulna/radius
What is the most common nonlethal skeletal dysplasia?
Achondroplasia
Which achondroplasia is considered lethal: Heterozygous or homozygous
Homozygous
Which skeletal disorder is known as "brittle bones"?
Osteogenesis imperfecta
What does camptomelic dysplasia indicate?
Bent bone
Characterized by gentle bowing of the long bones
What maternal disorder is caudal regression syndrome associated with?
Maternal diabetes
Define Ectrodacytly
Split-hand deformity
What chromosomal abnormality is rocker botton feet associated with?
Trisomy 18