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Keywords:

  • CMTC syndrome;
  • macrocephaly;
  • overgrowth;
  • polydactyly;
  • vascular ectasia

Abstract

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.