Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Am J Med Genet A. 2010 Dec;152A(12):3101-6. doi: 10.1002/ajmg.a.33514.

Abstract

Macrocephaly-capillary malformation (M-CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation. We describe the clinical features of 13 cases, report on the genome-wide Copy Number Variation characterization of these patients, analyze the main clinical features of this syndrome and propose a modification of the current diagnostic criteria: the inclusion of both overgrowth/asymmetry and neuroimaging alterations as major criteria.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Capillaries / abnormalities*
  • Child
  • Child, Preschool
  • DNA Copy Number Variations
  • Gene Frequency
  • Genetic Markers
  • Genotype
  • Humans
  • Livedo Reticularis
  • Male
  • Megalencephaly / diagnosis*
  • Megalencephaly / pathology
  • Port-Wine Stain / diagnosis*
  • Port-Wine Stain / pathology
  • Skin Diseases, Vascular / genetics
  • Syndrome
  • Telangiectasis / congenital
  • Telangiectasis / diagnosis*
  • Telangiectasis / genetics
  • Telangiectasis / pathology

Substances

  • Genetic Markers

Supplementary concepts

  • Cutis marmorata telangiectatica congenita