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June 1963

Mesenchymal Dysplasia With Impaired Thromboplastin Generation

Author Affiliations


Assistant Professor of Medicine, the Graduate School of Medicine, University of Pennsylvania; present address: the Graduate Hospital of the University of Pennsylvania, Philadelphia. Formerly Assistant Professor of Medicine, University of Miami School of Medicine, and Chief, Hematology Section, Veterans Administration Hospital, Coral Gables, Fla. (Dr. Brody).; Clinical Associate Professor of Radiology, University of Miami School of Medicine, Coral Gables, Fla.; and Radiologist, Variety Children's Hospital, Miami (Dr. Altman).; United States Public Health Research Fellow in Hematology (Dr. Kimball).; From the Department of Medicine, Veterans Administration Hospital, Coral Gables, Fla.; the Department of Radiology and Pediatrics, the Variety Children's Hospital, Miami, Fla.; and the Departments of Medicine and Pediatrics, the University of Miami School of Medicine, Coral Gables, Fla.

Arch Intern Med. 1963;111(6):784-790. doi:10.1001/archinte.1963.03620300104017

The purpose of this report is to describe a patient with a mesenchymal dysplasia incorporating the features of more than one hereditary disorder of connective tissue1,2 in association with a dual deficiency of blood coagulation factors. While the unusual abnormalities of the body supporting structures are in themselves of considerable interest, the inclusion of a paired lack of clotting elements raises questions singularly relevant to the possible relationship between genetic determinants which guide the development of both the connective tissue and blood clotting substances.

Report of Case  A three-year-old Negro girl was brought to the Variety Children's Hospital for the first time in 1958 because of difficulty in standing and walking for a period of 1 1/2 years. The developmental history revealed that the child could not stand unless aided by rigid support and that she was unable to walk until after the age of 18 months. Locomotion was

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