Ok Hwa Kim MD, PhD, Presenter: Nothing to Disclose

Gen Nishimura, Abstract Co-Author: Nothing to Disclose

Jin Dai, Abstract Co-Author: Nothing to Disclose

Shiro Ikegawa, Abstract Co-Author: Nothing to Disclose

Andrea Superti-Furga, Abstract Co-Author: Nothing to Disclose

Tae-Joon Cho MD, Abstract Co-Author: Nothing to Disclose

Mutations in TRPV4, which encodes a calcium permeable ion channel, have been shown to cause skeletal dysplasias including MD, SMDK and brachyolmia. The purpose of this exhibit is to review the radiological findings and differential points between MD and SMDK and  discuss the possible pathogenetic mechanism of radiological derangement.

 A multi-institutional cases review was performed on 26 patients, ranging in age from newborn to 18 years and 2 adults who were the mothers of affected children. We reviewed the clinical data and skeletal survey focused on radiographs of the spine, pelvis, long tubular bones and hand/feet. Of 26 patients, 15 diagnosed with MD, 7 were SMDK and 4 were intermediate type. All patients were confimred with TRPV4 mutation by genomic sequencing.

The characteristic radiological features in common are platyspondyly and variable degree of metaphyseal widening of long bones. The shape of pelvis including marked flaring of  ilium, supra-acetabular notch, epiphyseal dysplasias and brachydactyly are the main features differentiating MD from SMDK. Crossover of the radiological features as well as the same gene mutations, TRPV4 suggest that those two skeletal dysplasias may represent the continum of the spectrum of dysplasias.

Kim, O, Nishimura, G, Dai, J, Ikegawa, S, Superti-Furga, A, Cho, T, Comparison of the Radiological Findings of Metatropic Dysplasia (MD) and Spondylometaphyseal Dysplasia, Kozlowski Type (SMDK): Presentation of Genotypically Confirmed 26 Patients.  Radiological Society of North America 2010 Scientific Assembly and Annual Meeting, November 28 - December 3, 2010 ,Chicago IL. http://archive.rsna.org/2010/9005213.html