atelosteogenesis type 3

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atelosteogenesis type 3

A lethal short-limb skeletal dysplasia (OMIM:108721) with vertebral defects, defective skeletal maturation, poorly modelled long bones and joint dislocations, accompanied by recurrent respiratory insufficiency and/or infections that usually result in early death.

Molecular pathology
Defects in FLNB, which encodes filamin B, cause atelosteogenesis type 3.