| Literature DB >> 21271646 |
Melissa T Carter1, Michael T Geraghty, Laura De La Cruz, R Ross Reichard, Luigi Boccuto, Charles E Schwartz, Carol L Clericuzio.
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.Entities:
Mesh:
Year: 2011 PMID: 21271646 DOI: 10.1002/ajmg.a.33841
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802