August 1971


Author Affiliations

Baltimore; Minneapolis; Portland, Ore
From the Division of Medical Genetics, Department of Medicine, Johns Hopkins University, Baltimore (Drs. Walker, Murdoch, and McKusick); Department of Radiology, University of Minnesota Hospitals, Minneapolis (Dr. Langer); and Department of Orthopedic Surgery, University of Oregon Medical School, Portland (Dr. Beals). Dr. Murdoch is now with Loma Linda University, Loma Linda, Calif.

Am J Dis Child. 1971;122(2):95-104. doi:10.1001/archpedi.1971.02110020029001

In a survey of individuals with dwarfism in which 148 cases of typical achondroplasia were diagnosed, an additional group of 13 individuals was found to have an allied condition that was clearly a distinct entity. This is hypochondroplasia, a chondrodystrophy with roentgenographic changes similar to but milder than those of achondroplasia and without involvement of the skull. Hypochondroplasia is a heritable condition with autosomal dominant transmission. The diagnosis can only be established by roentgenographic examination.