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Achondroplasia

Clinical Radiologic Features with Comment on Genetic Implications

Clinical Associate Professor of Radiology, University of Minnesota. Mailing

Paul A. Baumann

Medical Fellow, Department of Radiology, University of Minnesota

Robert J. Gorlin

Professor and Chairman, Division of Oral Pathology, Department of Dentistry, University of Minnesota

"I have been associated with the Little People of America, a national organization of dwarfs, for five years, and have been running a registry for bone dysplasias at the University of Minnesota for two years. On the basis of this experience, I know that many individuals with other conditions are given the diagnosis of achondroplasia and that the implications of this diagnosis are often not recognized, or at least not trans mitted to the patient. 1 believe it is safe to say that a number of teachers of pediatrics consider achondroplasia as a broad category rather than a specific condition. I think this is wrong for the reasons stated in the pa per. Also, it seems to me, if this idea is abandoned more of an effort may be made to find out about conditions which are now considered 'atypical achondroplasia.'" —From the submission letter by the author.

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