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

✍ Scribed by Melissa T. Carter; Michael T. Geraghty; Laura De La Cruz; R. Ross Reichard; Luigi Boccuto; Charles E. Schwartz; Carol L. Clericuzio

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 212 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33841

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✦ Synopsis

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. © 2011 Wiley‐Liss, Inc.

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