boomerang dysplasia

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boomerang dysplasia2016-11-24T21:56:05+00:00

boomerang dysplasia

boomerang image from New Medical Terms

boomerang

GENETICS, ORTHOPAEDICS 

An osteochondrodysplastic syndrome (OMIM:112310) characterised by dwarfism, short, bowed, rigid limbs, typical facies and defects in long bone and vertebral body ossification. It is lethal in the neonatal period. 

It differs from atelosteogenesis as the mineralisation defects are more severe, with patchy absence of ossification in some bones. The name derives from the extreme bowing of the limbs which Kozlowski et al (1981) likened to a boomerang

boomerang dysplasia image from New Medical Terms

boomerang dysplasia

Molecular pathology Defects in FLNB, which encodes filamin B, cause boomerang dysplasia. 

Reference http://www.uniprot.org/uniprot/O75369K

http://www.omim.org/entry/112310

 

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