A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract

Ellyze Van Asbeck, David F.G.J. Wolthuis, Miski Mohamed, Ron A. Wevers, Cristoph G. Korenke, Thatjana Gardeitchik, Eva Morava

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1049-1055
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number4
DOIs
StatePublished - Apr 2014

Keywords

  • Abnormal fat distribution
  • Cardiomyopathy
  • Cataract
  • Cutis laxa
  • Failure to thrive
  • Wrinkly skin syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Van Asbeck, E., Wolthuis, D. F. G. J., Mohamed, M., Wevers, R. A., Korenke, C. G., Gardeitchik, T., & Morava, E. (2014). A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract. American Journal of Medical Genetics, Part A, 164(4), 1049-1055. https://doi.org/10.1002/ajmg.a.36392