Abstract
The skeletal changes of thirty-four patients with the biochemical and clinical features of cystathionine synthase deficiency are described. It is emphasized that there is clinical evidence of excessive bone growth and the formation for bone which is structurally weaker than normal. The similarities and differences between this condition and Marfan's syndrome are stressed and the possible nature of the connective tissue defect leading to the skeletal changes discussed. The most characteristic skeletal changes in homocystinuria are the skeletal disproportion (pubis-heel length greater than crown-pubis length), the abnormal vertebrae, sternal deformities, genu valgum and large metaphyses and epiphyses.
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- Brenton D. P., Dow C. J., James J. I., Hay R. L., Wynne-Davies R. Homocystinuria and Marfan's syndrome. A comparison. J Bone Joint Surg Br. 1972 May;54(2):277–298. [PubMed] [Google Scholar]
- Dehnel J. M., Francis M. J. Somatomedin (sulphation factor)-like activity of homocystine. Clin Sci. 1972 Dec;43(6):903–906. doi: 10.1042/cs0430903. [DOI] [PubMed] [Google Scholar]
- Kang A. H., Trelstad R. L. A collagen defect in homocystinuria. J Clin Invest. 1973 Oct;52(10):2571–2578. doi: 10.1172/JCI107449. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Pinnell S. R., Krane S. M., Kenzora J. E., Glimcher M. J. A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. N Engl J Med. 1972 May 11;286(19):1013–1020. doi: 10.1056/NEJM197205112861901. [DOI] [PubMed] [Google Scholar]
- Pinnell S. R., Martin G. R. The cross-linking of collagen and elastin: enzymatic conversion of lysine in peptide linkage to alpha-aminoadipic-delta-semialdehyde (allysine) by an extract from bone. Proc Natl Acad Sci U S A. 1968 Oct;61(2):708–716. doi: 10.1073/pnas.61.2.708. [DOI] [PMC free article] [PubMed] [Google Scholar]