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. 1980 Mar;73(3):180–186.

EDS IV (acrogeria): new autosomal dominant and recessive1

F M Pope, A C Nicholls, P M Jones, R S Wells, D Lawrence
PMCID: PMC1437515  PMID: 7230200

Abstract

Evidence is presented that type IV of the Ehlers-Danlos syndrome (EDS IV) is genetically variable. A benign autosomal dominant form and two autosomal recessive variants are described with clinical and biochemical features that are distinct from classical acrogeria.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BAZEX A., DUPRE A. Acrogeria type Gottron; a propos d'une observation; place de l'Acrogeria dans le cadre des atrophies cutanées congénitales. Ann Dermatol Syphiligr (Paris) 1955 Nov-Dec;82(6):604–625. [PubMed] [Google Scholar]
  2. Barabas A. P. Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s). Br Med J. 1967 Jun 3;2(5552):612–613. doi: 10.1136/bmj.2.5552.612. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Beighton P., Price A., Lord J., Dickson E. Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients. Ann Rheum Dis. 1969 May;28(3):228–245. doi: 10.1136/ard.28.3.228. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Byers P. H., Holbrook K. A., McGillivray B., MacLeod P. M., Lowry R. B. Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Hum Genet. 1979 Mar 12;47(2):141–150. doi: 10.1007/BF00273196. [DOI] [PubMed] [Google Scholar]
  5. Di Ferrante N., Leachman R. D., Angelini P., Donnelly P. V., Francis G., Almazan A. Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V. Connect Tissue Res. 1975;3(1):49–53. doi: 10.3109/03008207509152341. [DOI] [PubMed] [Google Scholar]
  6. Gay S., Martin G. R., Muller P. K., Timpl R., Kuhn K. Simultaneous synthesis of types I and III collagen by fibroblasts in culture. Proc Natl Acad Sci U S A. 1976 Nov;73(11):4037–4040. doi: 10.1073/pnas.73.11.4037. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Laemmli U. K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 1970 Aug 15;227(5259):680–685. doi: 10.1038/227680a0. [DOI] [PubMed] [Google Scholar]
  8. Lichtenstein J. R., Martin G. R., Kohn L. D., Byers P. H., McKusick V. A. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science. 1973 Oct 19;182(4109):298–300. doi: 10.1126/science.182.4109.298. [DOI] [PubMed] [Google Scholar]
  9. Miller E. J. Isolation and characterization of a collagen from chick cartilage containing three identical alpha chains. Biochemistry. 1971 Apr 27;10(9):1652–1659. doi: 10.1021/bi00785a024. [DOI] [PubMed] [Google Scholar]
  10. Miller E. J. Isolation and characterization of a collagen from chick cartilage containing three identical alpha chains. Biochemistry. 1971 Apr 27;10(9):1652–1659. doi: 10.1021/bi00785a024. [DOI] [PubMed] [Google Scholar]
  11. Morris D. Acrogeria. Proc R Soc Med. 1957 May;50(5):330–331. [PMC free article] [PubMed] [Google Scholar]
  12. Morris D. Acrogeria. Proc R Soc Med. 1957 May;50(5):330–331. [PMC free article] [PubMed] [Google Scholar]
  13. 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]
  14. 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]
  15. Pope F. M., Martin G. R., Lichtenstein J. R., Penttinen R., Gerson B., Rowe D. W., McKusick V. A. Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci U S A. 1975 Apr;72(4):1314–1316. doi: 10.1073/pnas.72.4.1314. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Pope F. M., Martin G. R., McKusick V. A. Inheritance of Ehlers-Danlos type IV syndrome. J Med Genet. 1977 Jun;14(3):200–204. doi: 10.1136/jmg.14.3.200. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Siegel R. C., Black C. M., Bailey A. J. Cross-linking of collagen in the X-linked Ehlers-Danlos Type V. Biochem Biophys Res Commun. 1979 May 14;88(1):281–287. doi: 10.1016/0006-291x(79)91727-3. [DOI] [PubMed] [Google Scholar]

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