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.
References
1.
BarabasA.P. (1967) British Medical Journalii, 612–613
2.
BasexA., & DupréA. (1955) Annates de dermatologie et de syphiligraphie82, 604–625
3.
BeightonP.H., PriceA., LordJ., & DicksonE. (1969) Annals of the Rheumatic Diseases28, 228–245
4.
ByersP.H., HolbrookK.A., McGillivaryB., MacleodP.M., & LowryR.B. (1979) Human Genetics47, 141–150
McKusickV.A. (1978) Mendelian Inheritance in Man.5th edn.Johns Hopkins University Press, Baltimore
10.
MillerE.J. (1971) Biochemistry10, 1652–1659
11.
MorrisD. (1957) Proceedings of the Royal Society of Medicine50, 330–331
12.
PinnellS.R., KraneS.M., KenzoraJ.E., & GlimcherM.J. (1972) New England Journal of Medicine286, 1013–1020
13.
MillerE.J. (1971) Biochemistry10, 1652–1659
14.
MorrisD. (1957) Proceedings of the Royal Society of Medicine50, 330–331
15.
PinnellS.R., KraneS.M., KenzoraJ.E., & GlimcherM.J. (1972) New England Journal of Medicine286, 1013–1020
16.
PopeF.M., MartinG.R., LichtensteinJ.R., PenttinenR., GersonB., & RoweD.W. (1975) Proceedings of the National Academy of Sciences of the USA72, 1314–1316
17.
PopeF.M., MartinG.R., & McKusickV.A. (1977) Journal of Medical Genetics14, 200–214