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A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies
Author(s) -
Carter Melissa T.,
Geraghty Michael T.,
De La Cruz Laura,
Reichard R. Ross,
Boccuto Luigi,
Schwartz Charles E.,
Clericuzio Carol L.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33841
Subject(s) - microcephaly , atrophy , medicine , hypoplasia , pediatrics , anatomy , pathology
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.