Boomerang dysplasia

Definition:

Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang like aspect of the long tubular bones. BD is caused by mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B.

References:

[1]. L S Bicknell, et al. Mutations in FLNB cause boomerang dysplasia. J Med Genet. 2005 Jul;42(7):e43. [Content Brief]

[2]. Marja W Wessels, et al. Prenatal diagnosis of boomerang dysplasia. Am J Med Genet A. 2003 Oct 1;122A(2):148-54. [Content Brief]

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