A pragmatic approach to the radiologic diagnosis of pediatric syndromes and skeletal dysplasias.
This article describes a practical approach to the radiologic evaluation and diagnosis of inherited bone dysplasias and syndromes. Useful references and resource materials are suggested. To illustrate these points, challenge cases are provided. The reader is invited to research each of these examples and arrive at a diagnosis. The correct diagnosis and case discussion follow the figures.
Markowitz
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Department of Radiology, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA. markowitz@email.chop.edu
Zackai
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D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging; D011859:Radiography