Download e-book for iPad: Advances in Human Genetics: 12 by David W. Hollister, Peter H. Byers, Karen A. Holbrook

By David W. Hollister, Peter H. Byers, Karen A. Holbrook (auth.), Harry Harris, Kurt Hirschhorn (eds.)

ISBN-10: 1461583152

ISBN-13: 9781461583158

ISBN-10: 1461583179

ISBN-13: 9781461583172

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These patients had abnormal collagen fibrils in skin as well (Holbrook and Byers, unpublished observations), which suggested that macromolecules other than Type I collagen may be responsible for the abnormal structures in these disorders. EDS II The clinical features of EDS II, the mitis form, are similar to those of EDS I, but milder. Skin is soft and velvety, and scarring, bruising, and joint hypermobility are less than in EDS 1. Like EDS I, EDS II is inherited in an autosomal dominant fashion and there is only modest variability in expression.

II a & % ~ ii < Dl ~ a AD: Autosomal dominant. AR: Autosomal recessive. XR: X-linked recessive. Marked skin fragility with abnormal, atrophic pigmented scars, minimal skin extensibility and moderate joint laxity; aesthenic habitus, generalized periodontitis VIII Periodontal form AD AR AD AR Soft, velvety, hyperextensible skin; hypermobile joints; scoliosis, scarring less severe than in EDS I; some patients have ocular fragility and keratoconus Soft skin; scars near normal; marked joint hyperextensibility, congenital hip dislocation XR Similar to EDS II; bruising may be more extensive VII Arthrochalasis multiplex congenita V X-linked VI Ocular Not known Small collagen bundles, fibrils normal or similar to those in EDS I Not known Lysyl hydroxylase deficiency Amino acid substitution at the NHz-terminal cleavage site of pro

Some individuals may develop subcutaneous calcified nodules which are readily palpable. Prematurity is common, presumably because of fragility of the fetal membranes. EDS I is inherited in an autosomal dominant manner with relatively little variation in expression. Although there are no distinctive biochemical tests, the diagnosis is generally not ambiguous in families. In the sporadic individual the diagnosis of EDS V (in males) or EDS VI must be considered. The biochemical pathogenesis of EDS I remains uncertain.

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Advances in Human Genetics: 12 by David W. Hollister, Peter H. Byers, Karen A. Holbrook (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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