In:
American Journal of Medical Genetics Part A, Wiley, Vol. 164, No. 4 ( 2014-04), p. 1049-1055
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. © 2014 Wiley Periodicals, Inc.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v164a.4
DOI:
10.1002/ajmg.a.36392
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
1493479-6
SSG:
12
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