Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder?
Article first published online: 5 SEP 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 116A, Issue 2, pages 184–187, 15 January 2003
How to Cite
Mégarbané, A., Haddad, J., Lyonnet, S. and Clayton-Smith, J. (2003), Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder?. Am. J. Med. Genet., 116A: 184–187. doi: 10.1002/ajmg.a.10705
- Issue published online: 19 DEC 2002
- Article first published online: 5 SEP 2002
- Manuscript Accepted: 28 APR 2002
- Manuscript Received: 16 MAY 2001
- Jérôme Lejeune Foundation
- CMTC syndrome;
- vascular ectasia
We report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature. © 2002 Wiley-Liss, Inc.