## Abstract A patient is presented with severe cutis laxa of the abdomen. Molecular investigations, including sequencing of the __fibulinβ5__ and __elastin__ gene, failed to endorse the diagnosis of inherited cutis laxa. Ultrasonographical discovery of renal calcifications during his general workβu
β¦ LIBER β¦
Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis
β Scribed by Franziska Ringpfeil
- Book ID
- 116368170
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 145 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0738-081X
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## Abstract We report a 7.5βyearβold boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bila