Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.
Cleft Palate Craniofac J
; 52(2): 234-6, 2015 Mar.
Article
em En
| MEDLINE
| ID: mdl-24919122
ABSTRACT
Craniofrontonasal syndrome (CFNS; OMIM # 304110) is a rare X-linked disorder with greater severity in heterozygous females than in hemizygous males. CFNS is characterized by coronal craniosynostosis, frontal bossing, severe hypertelorism, craniofacial asymmetry, downslant palpebral fissure, broad nasal root, bifid nasal tip, grooved fingernails, curly wiry hair, and abnormalities of the thoracic skeleton. There are very few cases describing association of CFNS with heart defects. We discuss a very rare feature atrial septal defect in a molecularly confirmed case of CFNS.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Craniofaciais
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Efrina-B1
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Hipertelorismo
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Mutação
Limite:
Female
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Humans
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Infant
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article