A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.
Am J Med Genet A
; 155A(2): 301-6, 2011 Feb.
Article
em En
| MEDLINE
| ID: mdl-21271646
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.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Convulsões
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Anormalidades Múltiplas
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Capilares
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Deformidades Congênitas dos Membros
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Mancha Vinho do Porto
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Microcefalia
Limite:
Child, preschool
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Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article