A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies

Am J Med Genet A. 2011 Feb;155A(2):301-6. doi: 10.1002/ajmg.a.33841.

Abstract

We present two unrelated male infants with strikingly similar clinical features which have not previously been reported together. The most unusual feature was the presence of multiple small capillary malformations (port-wine stains) on the skin from birth. Both infants had intractable seizures, microcephaly with progressive cortical atrophy, severe developmental delay, dysmorphic facial features, and hypoplasia of the distal phalanges. To our knowledge, no other person with this unique constellation of features has been described.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Capillaries / abnormalities*
  • Child, Preschool
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Limb Deformities, Congenital / pathology*
  • Male
  • Microarray Analysis
  • Microcephaly / pathology*
  • Port-Wine Stain / pathology*
  • Seizures / pathology*
  • Syndrome