Article
A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.
Fetal diagnosis and therapy - 1 Jan 2012
Tsutsumi Seiji, Maekawa Ayako, Obata Miyuki, Morgan Timothy, Robertson Stephen P, Kurachi Hirohisa
Abstract excerpt
Boomerang dysplasia is a rare lethal osteochondrodysplasia characterized by disorganized mineralization of the skeleton, leading to complete nonossification of some limb bones and vertebral elements, and a boomerang-like aspect to some of the long tubular bones. Like many short-limbed skeletal dysplasias with accompanying thoracic hypoplasia, the potential lethality of the phenotype can be difficult to ascertain...
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