Larsen syndrome

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Larsen syndrome2016-11-26T15:04:36+00:00

Larsen syndrome

GENETICS, ORTHOPAEDICS

Definition A heterogeneous disorder (OMIM:150250) characterised by multiple joint dislocations, with equinovarus or equinovalgus foot deformities, craniofacial defects–hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface, and accessory carpal bones.

Molecular pathology Defects in FLNB, which encodes filamin B, cause Larsen syndrome. 

References http://www.uniprot.org/uniprot/O75369

http://www.omim.org/entry/150250

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