Mesenchymal Dysplasia With Impaired Thromboplastin Generation

Abstract

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 tissue^1,2 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