The radiologic diagnosis of skeletal dysplasias: past, present and future
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MINISYMPOSIUM: IMAGING OF SKELETAL DYSPLASIA
The radiologic diagnosis of skeletal dysplasias: past, present and future Amaka C. Offiah 1
&
Christine M. Hall 2
Received: 15 March 2019 / Revised: 8 July 2019 / Accepted: 10 September 2019 / Published online: 22 October 2020 # The Author(s) 2019
Abstract Skeletal dysplasias have been recognised since recorded history began. The advent of radiography at the beginning of the 20th century and the subsequent introduction of departments of radiology have had tremendous impact and allowed conditions to be identified by their specific radiographic phenotypes. This has been enhanced by the addition of cross-sectional modalities (ultrasound, computed tomography and magnetic resonance imaging), which have allowed for prenatal recognition and diagnosis of skeletal dysplasias, and by the recent explosion in identified genes. There are more than 400 recognised skeletal dysplasias, many of which (due to their rarity) the practising clinician (radiologist, paediatrician, geneticist) may never come across. This article provides a historical overview of aids to the radiologic diagnosis of skeletal dysplasias. Keywords Child . Database . Medical history . Ontology . Radiology . Skeletal dysplasia
The miraculous impact of Röntgen rays Skeletal dysplasias have been recognised since recorded history began. There are carved ivory statuettes of individuals with achondroplasia as early as the Predynastic Period in ancient Egypt from more than 6 millennia ago. In the Early Dynastic Period (about 3,000 BCE) the statues and carvings were true representations of the human form and achondroplasia was clearly recognisable (Fig. 1). Since then, people of short stature have played important roles in society, including as portents of good luck, workers in precious metals, servants in royal households, jesters, jugglers and actors. More recently, classification of skeletal dysplasias was begun by the great anatomists and pathologists of the 17th to 19th centuries, although many dysplasias were mistakenly diagnosed as rickets or syphilis. The larger displays are in the Rondemuseum (a former mental asylum) in Vienna, the Berlin Museum of * Amaka C. Offiah [email protected] 1
Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Western Bank, Sheffield S10 2TH, UK
2
Institute of Child Health, University College London, London, UK
Medical History (housing the Virchow Collection) and the Museum Vrolik in Amsterdam. “I have seen my death!” exclaimed Anna Röntgen in 1895 when her husband showed her a radiograph of her hand; it must have seemed a miracle to her. In fact, the advent of radiography at the beginning of the 20th century and the subsequent introduction of departments of radiology, have had tremendous (if not miraculous) impact and allowed conditions to be identified by their specific radiographic phenotypes. Until this time, conditions had mainly been defined by their clinical phenotypes, leading to many different conditions being named as achon
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