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Sat12072019

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Dwarfism

Campomelic Dysplasia

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What does the name mean?

The term ‘campomelic’ or ‘camptomelic’ is of Greek origin and literally means ‘bent limb.’ How common is campomelic dysplasia?

Campomelic dysplasia is one of the more rare forms of congenital short-limb dwarfism. Its incidence is approximately 1 in 111,000 to 1 in 200,000 live births (2).Is campomelic dysplasia inherited?

Campomelic dysplasia is typically inherited in a sporadic, autosomal dominant manner (3).What causes campomelic dysplasia?

Campomelic dysplasia is caused...What does the name mean?

The term ‘campomelic’ or ‘camptomelic’ is of Greek origin and literally means ‘bent limb.’ How common is campomelic dysplasia?

Campomelic dysplasia is one of the more rare forms of...

Thanatophoric Dysplasia

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What does the name mean?

“Thanatophoric” is a Greek term meaning “death-bringing.” There are two distinct forms of this dysplasia: Type 1 and Type 2. How common is thanatophoric dysplasia?

Thanatophoric Dwarfism is one of the most common lethal skeletal dysplasias. Its incidence is approximately 2 to 5 in 100,000 births (2). Is thanatophoric dysplasia inherited?

Thanatophoric dysplasia follows an autosomal dominant inheritance pattern. All cases are a result of spontaneous gene...