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A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
Author(s) -
Van Asbeck Ellyze,
Wolthuis David F.G.J.,
Mohamed Miski,
Wevers Ron A.,
Korenke Cristoph G.,
Gardeitchik Thatjana,
Morava Eva
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36392
Subject(s) - cutis laxa , cardiomyopathy , phenotype , elastin , medicine , pathology , connective tissue , dermatology , gene , biology , genetics , heart failure
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. © 2014 Wiley Periodicals, Inc.