Skip to main content
PMC home page
Journal of the Royal Society of Medicine logoLink to Journal of the Royal Society of Medicine
. 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.

Full text

PDF
180

Images in this article

182Figure 1.
on p.182
182Figure 2.
on p.182
182Figure 3. A
on p.182
182Figure 3. B
on p.182
183Figure 4.
on p.183
183Figure 5. A
on p.183
183Figure 5. B
on p.183
184Figure 7.
on p.184
185Figure 8. A
on p.185
185Figure 8. B
on p.185

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]

Articles from Journal of the Royal Society of Medicine are provided here courtesy of Royal Society of Medicine Press

RESOURCES