We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A Case of Boomerang Dysplasia with a Novel Causative Mutation in Filamin B: Identification of Typical Imaging Findings on Ultrasonography and 3D-CT Imaging.
- Authors
Tsutsumi, Seiji; Maekawa, Ayako; Obata, Miyuki; Morgan, Timothy; Robertson, Stephen P.; Kurachi, Hirohisa
- Abstract
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
- Subjects
DYSPLASIA; GENETIC mutation; FILAMINS; ULTRASONIC imaging; FETAL imaging; OSTEOCHONDRODYSPLASIAS; OSSIFICATION; MICROFILAMENT proteins
- Publication
Fetal Diagnosis & Therapy, 2012, Vol 32, Issue 3, p216
- ISSN
1015-3837
- Publication type
Article
- DOI
10.1159/000335687