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Sadia
Sadia3 months ago
Achondrogenesis

Achondrogenesis

Achondrogenesis is a group of rare skeletal dysplasias characterized by extreme shortening of the arms and legs in relation to the trunk, abnormal development of ribs, vertebra and other skeletal abnormalities. The health problems associated with these conditions are life-threatening and most affected infants are stillborn or die shortly after birth due to respiratory failure. All types of achondrogenesis are genetic conditions; type IA and type IB, are autosomal recessive disorders, whereas achondrogenesis type II is an autosomal dominant disorder. All types of achondrogenesis are very severe skeletal dysplasias usually detected by prenatal ultrasound examination as early as week 14-17 of gestational age.

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3 months ago

Yeah almost the same in that the bones may be formed differently,more fragile or even absent eg. collar bones but life expectancy is normal and is rarely lethal in early fetal life

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3 months ago

Cleidocranial dysplasia is also a type of achondrogenesis right?