A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.
Am J Med Genet A
; 161A(9): 2291-3, 2013 Sep.
Article
em En
| MEDLINE
| ID: mdl-23873869
ABSTRACT
Toriello-Carey syndrome is rare condition characterized by agenesis of the corpus callosum, the Pierre Robin sequence, and facial anomalies such as telecanthus, short palpebral fissures, and a small nose with anteverted nares [Toriello and Carey, 1988]. In addition, tracheal and laryngeal anomalies are common complications in patients with Toriello-Carey syndrome, and these anomalies can lead to death [Kataoka et al., 2003]. Congenital tracheal stenosis is a life-threatening condition with high mortality. Even if surgery is successful, several serious complications can result in a high risk of mortality. We describe a case of a Japanese boy with Toriello-Carey syndrome who had severe congenital tracheal stenosis, in whom surgical tracheal plasty was avoided because of adequate respiratory care, allowing the patient to be alive at 18 months of age.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Pierre Robin
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Traqueia
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Anormalidades Urogenitais
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Deformidades Congênitas dos Membros
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Constrição Patológica
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Anormalidades Craniofaciais
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Agenesia do Corpo Caloso
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Cardiopatias Congênitas
Limite:
Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Japão