A Novel Phenotype Associated With Cutis Laxa, Abnormal Fat Distribution, Cardiomyopathy and Cataract

作者：Van A**eck Ellyze; Wolthuis David F G J; Mohamed Miski; Wevers Ron A; Korenke Cristoph G; Gardeitchik Thatjana; Morava Eva^*

来源：American Journal of Medical Genetics, Part A, 2014, 164(4): 1049-1055.

DOI：10.1002/ajmg.a.36392

• cutis laxa
• wrinkly skin syndrome
• failure to thrive
• cardiomyopathy
• cataract
• abnormal fat distribution

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.

• 出版日期2014-4