Familial Metaphyseal Dysplasia

Autor: Morris W. Dexter, Robert A. Switzer, Edward M. Langer, Harold Feld
Rok vydání: 1955
Předmět:
Zdroj: Radiology. 65:206-212
ISSN: 1527-1315
0033-8419
DOI: 10.1148/65.2.206
Popis: This paper reports two cases of familial metaphyseal dysplasia involving a brother and sister. These cases are being added to the 4 cases previously reported in the literature. Report Of Cases Case I: A 53-year-old white male, a laborer, was first seen at Bay Pines Veterans Administration Center on Aug. 10, 1953, with osseous lesions discovered elsewhere roentgenographically and attributed to Gaucher's disease. He had been completely asymptomatic until 1942, when he began to experience intermittent pain in the knees, back, right shoulder, and proximal interphalangeal joints of both hands. He also had some swelling of the right knee. This was thought to represent an osteoarthritis. Roentgenograms taken in 1943, however, showed widening of the proximal and distal ends of the tibia, and at that time a diagnosis of Albers-Schonberg disease was made. In 1946, these bony changes were again noted, and it was at this time that the diagnosis of Gaucher's disease was made, though a biopsy taken from the right tibia...
Databáze: OpenAIRE