ROENTGENOGRAPHIC MANIFESTATIONS OF HEREDITARY PERIPHERAL DYSOSTOSIS

¹ Associate Professor of Medicine, University of Vermont, School of Medicine, Burlington, Vermont
² Professor and Chairman, Department of Radiology, University of Virginia, School of Medicine, Charlottesville, Virginia

The occurrence of a genetic type of peripheral dysostosis is described. Both the extreme variation in the roentgenographic manifestations and the pedigree analyses suggest an autosomal dominant pattern of inheritance.

The roentgenographic examination demonstrates all the features discussed in previous publications, and the genetic studies emphasize the heterogeneity of the roentgenologic findings.

For the present, the variability with the clearly genetic types strongly implicates a single entity, peripheral dysostosis, as responsible for the diversity. Cone-shaped epiphyses, short phalanges, short metacarpals, short metatarsals can occur as isolated phenomena, but further family studies may bring the spectrum of peripheral dysostosis into perspective. One other component of this disorder, the short stature, is a constant feature in affected individuals.

The genetic diversity of peripheral dysostosis may obviate the necessity of subclassification; however, the presence of clinical symptoms and signs in affected individuals as yet poorly classified in relation to the brachydactyly itself may provide a need for further separation of this seemingly single disease.

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