A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.
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.
Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland, Netherlands; Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, Louisiana.
Ellyze
E
Van Asbeck
David F G J
DF
Wolthuis
Miski
M
Mohamed
Ron A
RA
Wevers
Cristoph G
CG
Korenke
Thatjana
T
Gardeitchik
Eva
E
Morava
D000293:Adolescent; D050218:Body Fat Distribution; D009202:Cardiomyopathies / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D003483:Cutis Laxa / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D015595:Skin Aging / Q000235:genetics
abnormal fat distribution; cardiomyopathy; cataract; cutis laxa; failure to thrive; wrinkly skin syndrome