A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
Fulltext:
127615.pdf
Embargo:
until further notice
Size:
518.1Kb
Format:
PDF
Description:
Publisher’s version
Publication year
2014Source
American Journal of Medical Genetics. Part A, 164, 4, (2014), pp. 1049-55ISSN
Publication type
Article / Letter to editor
Display more detailsDisplay less details
Organization
Laboratory Medicine
Paediatrics - OUD tm 2017
Journal title
American Journal of Medical Genetics. Part A
Volume
vol. 164
Issue
iss. 4
Page start
p. 1049
Page end
p. 55
Subject
Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience; Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life SciencesAbstract
Cutis laxa (CL) is a connective tissue disorder, characterized by loose, inelastic, sagging skin. Both acquired and inherited (dominant, recessive, and X-linked) forms exist. Here, we describe a new phenotype, which overlaps with other known CL syndromes. Our patient has a unique combination of features in association with sagging, inelastic, wrinkled skin, including cataract, severe cardiomyopathy, abnormal fat distribution, improvement of skin-wrinkling with age, and white matter abnormalities but no significant histologic collagen or elastin abnormalities. Mutation analysis of known CL genes was negative. We suggest that our patient has a novel syndrome, with the main features of CL, intellectual disability, abnormal fat distribution, cardiomyopathy, and cataract. (c) 2014 Wiley Periodicals, Inc.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122543]
- Faculty of Medical Sciences [90373]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.