Neonatal skeletal dysplasias
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- Parnell, S.E. & Phillips, G.S. Pediatr Radiol (2012) 42(Suppl 1): 150. doi:10.1007/s00247-011-2176-2
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Skeletal dysplasias are a large diverse group of disorders characterized by abnormal bone and cartilage growth. Approximately one-quarter of them are considered lethal in the perinatal period. This paper will review the components of the skeletal survey, the primary imaging tool for diagnosing dysplasias postnatally, emphasizing the use of an organized approach and appropriate descriptive terminology. Several illustrative cases of lethal and nonlethal dysplasias will be shown, with additional discussion of commonly associated genetic mutations and classification systems.