Diastrophic dysplasia: Extreme variabili
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Hall, Bryan D.
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Article
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1996
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John Wiley and Sons
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English
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Three sibs were eventually diagnosed as having diastrophic dysplasia. The firstborn, a male, lacked many of the clinical manifestations and radiological abnormalities of the hands, such that the diagnosis of diastrophic dysplasia could not be made. Subsequently, his twin sisters were born with more