1 - Serviço de Radiologia, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa;
- apresentação sob a forma de poster electrónico em reunião internacional – 2024 European Congress of Radiology – 28/02/2024 – 03/03/2024;
Resumo:
Learning objectives: Skeletal dysplasias are a vast and heterogenous group of disorders that despite being individually rare, their overall prevalence makes it possible that general radiologists stumble upon them. As such, this educational poster aims to review the commonest radiographic findings, provide a simplified approach to the differential diagnosis of these entities and reduce diagnostic uncertainty.
Background: Skeletal dysplasias encompass more than 400 individual disorders that disturb the normal growth and development of the skeletal system. In addition to the valuable clinical assessment, radiographies remain a cornerstone in the diagnostic evaluation, allowing characterization of morphologic phenotypes and guiding genetic testing. Most cases of ordinary dysplasias are due to usual acquired disorders or not so rare congenital dysplasias, meaning that being familiar with few radiological features permits a structured approach to a differential diagnosis.
Findings: When faced with a suspected bone disorder both radiological and clinical aspects should be taken into consideration. Investigating any known systemic conditions and clinically assessing the patients is helpful and may reveal findings that are sometimes challenging to perceive on radiographic surveys, such as disproportionate body segments or dysmorphic soft tissue features. After obtaining the skeletal survey a systematic approach is recommended to categorize the findings according to the involvement of the axial or appendicular skeleton, morphological bone abnormalities or bone density changes. The radiographic phenotypes of the most common skeletal dysplasias will be reviewed.
Conclusion: Skeletal dysplasias are not as uncommon as generally thought and their appropriate diagnosis relies on a multidisciplinary approach in which skeletal radiographic surveys have an important role. Becoming familiar with typical radiographic features of skeletal dysplasias provides general radiologists a framework to the classification of these entities and subsequently improves patient care.
Palavras Chave: Displasias, Esqueléticas, Pediatria, Radiologia