Handa Atsuhiko,  Nishimura Gen

Final Pr. ID: Poster #: EDU-058

A term “ciliopathy” represents a diverse group of genetic disorders caused by mutations in genes coding for components of the primary cilia. Primary cilia have a pivotal biological role in the cell surface of nearly every organ system of the body. "Skeletal ciliopathy" is a subset of ciliopathy mainly affecting the skeleton and shares common radiological findings such as short ribs, short limbs, and short digits with or without polydactyly. Pattern recognition approach is thus useful to diagnose skeletal ciliopathy. Skeletal ciliopathy includes (1) Jeune asphyxiating thoracic dysplasia, (2) Ellis-van Creveld syndrome (chondroectodermal dysplasia), (3) Sensenbrenner syndrome (cranioectodermal dysplasia), and (4) Short rib-polydactyly syndromes. Clinically, affected patients commonly present with thoracic hypoplasia with respiratory failure and disproportional stature with a normal trunk and short limbs most severe in the distal segments. Brachydactyly is conspicuous. Patients may have extra-skeletal anomalies such as retinopathy, cardiac anomalies, cerebellar malformations, and hepatorenal failures.
Radiological diagnosis of bone dysplasia might be regarded as something complex. We aim to highlight a pattern recognition approach to diagnose skeletal ciliopathies, one of the major bone dysplasias, by providing many cases. We will also review a general concept of "bone dysplasia family" which refers to a grouping of radiologically similar skeletal disorders into a “family.” This concept has been widely accepted now after we found that phenotypic similarities usually indicate the same/similar pathogenetic mechanisms, and it supports the use of a pattern recognition approach. Imaging diagnosis can guide genetic testing, interpretation, and possibly identify new genes or mutations. Read More

Authors:  Handa Atsuhiko , Nishimura Gen

Keywords:  Bone Dysplasia, Ciliopathy