TY - JOUR
T1 - A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
AU - Van Asbeck, Ellyze
AU - Wolthuis, David F.G.J.
AU - Mohamed, Miski
AU - Wevers, Ron A.
AU - Korenke, Cristoph G.
AU - Gardeitchik, Thatjana
AU - Morava, Eva
PY - 2014/4
Y1 - 2014/4
N2 - 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.
AB - 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.
KW - Abnormal fat distribution
KW - Cardiomyopathy
KW - Cataract
KW - Cutis laxa
KW - Failure to thrive
KW - Wrinkly skin syndrome
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U2 - 10.1002/ajmg.a.36392
DO - 10.1002/ajmg.a.36392
M3 - Article
C2 - 24459010
AN - SCOPUS:84896319593
SN - 1552-4825
VL - 164
SP - 1049
EP - 1055
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 4
ER -