Skeletal ciliopathies: a pattern recognition approach

• Published in: Japanese journal of radiology 2020-03, Vol.38 (3), p.193-206
• Main Authors: Handa, Atsuhiko, Voss, Ulrika, Hammarsjö, Anna, Grigelioniene, Giedre, Nishimura, Gen
• Format: Article
• Language: English
• Subjects: Abnormalities; Anomalies; Autosomal recessive inheritance; Bones; Brachydactyly; Cerebellum; Cilia; Coronary artery disease; Degeneration; Disorders; Dysplasia; Epiphysis; Genetic disorders; Heart diseases; Hypoplasia; Imaging; Invited Review; Liver diseases; Medicin och hälsovetenskap; Medicine; Medicine & Public Health; Mutation; Nuclear Medicine; Pattern recognition; Pelvis; Polydactyly; Radiology; Radiotherapy; Respiratory failure; Retinopathy; Spine; Thorax
• ISSN: 1867-1071; 1867-108X; 1867-108X
• DOI: 10.1007/s11604-020-00920-w

Ciliopathy encompasses a diverse group of autosomal recessive genetic disorders caused by mutations in genes coding for components of the primary cilia. Skeletal ciliopathy forms a subset of ciliopathies characterized by distinctive skeletal changes. Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis–van Creveld syndrome, Sensenbrenner syndrome, and short-rib polydactyly syndromes. These disorders share common clinical and radiological features. The clinical hallmarks comprise thoracic hypoplasia with respiratory failure, body disproportion with a normal trunk length and short limbs, and severely short digits occasionally accompanied by polydactyly. Reflecting the clinical features, the radiological hallmarks consist of a narrow thorax caused by extremely short ribs, normal or only mildly affected spine, shortening of the tubular bones, and severe brachydactyly with or without polydactyly. Other radiological clues include trident ilia/pelvis and cone-shaped epiphysis. Skeletal ciliopathies are commonly associated with extraskeletal anomalies, such as progressive renal degeneration, liver disease, retinopathy, cardiac anomalies, and cerebellar abnormalities. In this article, we discuss the radiological pattern recognition approach to skeletal ciliopathies. We also describe the clinical and genetic features of skeletal ciliopathies that the radiologists should know for them to play an appropriate role in multidisciplinary care and scientific advancement of these complicated disorders.