Multiple Epiphyseal Dysplasia

THE AUTHOR recently had the opportunity to study two siblings as well as the photographs of roentgenograms of the father who died in 1965.3 The three patients are dwar fed and have diffuse epiphyseal abnormalities and severe vertebral deformities. A review of the reported cases of generalized epiphyseal dysplasias failed to disclose any similar examples. The progressive verte bral changes which began in childhood and eventually produced severe deformity in the adult are of particular interest. Complete destruction of the capital femoral epiphyses and virtual disappearance of the femoral necks are also unique to these cases. Moderat e dwarfing has resulted from the combined vertebral and epiphyseal deformities. A dominant hereditary transmission is appar ently operative. Presentation of the clinical and x–ray findin gs of these cases and a discu ssion of the vertebral abnormalities associated with the pre sently classified groups of generalized epiphyseal dysplasias form the basis of this report. Description of Patients Joseph A. (CASE I) is a sev en–year–old Negro boy , and his sis ter, Yvonne A. (CASE II), is nineteen years of age. Their father , Herbert A. (CASE III), died at the age of forty–two of myocardial infarction. All three were products of normal gestations. Littl e is known of the father except that he was short , reaching the height of 4 ft. 10 in . as an adult. His mother was normal but his father was only ,3 ft. 2 in . tall. He had no siblings, and there are no other known members of his family who are dwarfed. His wife, the mother of Jo seph and Yvonne , and her other two children by ano ther marriage are normal in height. Both children appeared normal at birth but were thought to be “ short” by the age of one year , and a pigeon–breast deformity was noted in Joseph when he was seven months old. Their developmental milest ones were normal. Speech and toilet training were uneventful. The intelligence of the two siblings is normal. The physical measurements are outlined in TABLE I. The gait of the 3 patients is described as “waddling,” and the range of motion of the hips is limited. Genu valgum is present . The hands and feet of the older child and of the father (CASE III) are short and broad and the fingers and toes stubby while those of the boy are still relatively normal. There is rhizomelic shortening of the upper extremities. Lumbar lordosis is marked in all three patients, but the dorsal kyph oscoliotic deformity is most severe in CASES II and III. Ophthalmologic examination of the children failed to show corneal or lenticular opacities, and the father had no known visual difficulty during life. Findings of laboratory studies of the siblings including blood counts, urinalyses, and levels of calcium, phosphorus, and alkaline phosphatase in the blood are normal.