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 prenatally. We report a case of boomerang dysplasia prenatally diagnosed by use of ultrasonography and 3D-CT imaging, and identified a novel mutation in the gene encoding the cytoskeletal protein filamin B (FLNB) postmortem. Findings that aided the radiological diagnosis of this condition in utero included absent ossification of two out of three long bones in each limb and elements of the vertebrae and a boomerang-like shape to the ulnae. The identified mutation is the third described for this disorder and is predicted to lead to amino acid substitution in the actin-binding domain of the filamin B molecule. Copyright © 2012 S. Karger AG, Basel.
CITATION STYLE
Tsutsumi, S., Maekawa, A., Obata, M., Morgan, T., Robertson, S. P., & Kurachi, H. (2012). 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, 32(3), 216–220. https://doi.org/10.1159/000335687
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