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1.
Am J Med Genet A ; 134(4): 447-9, 2005 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-15782417

RESUMO

Bifid epiglottis is a rare anomaly, which is heterogeneous and is often associated with other anomalies, particularly polydactyly. It has been reported in 40% of patients with Pallister-Hall syndrome and rarely in other syndromes. We report two brothers with bifid epiglottis who also have features suggestive of Bardet-Biedl syndrome. We also review the features seen in 22 patients reported in the literature with bifid epiglottis. No patient had bifid epiglottis as an isolated anomaly. Other malformations include clefts, micropenis, renal abnormalities, anal malformations, hypospadias, hypothalamic hamartomas, hypopituitarism, heart defects, and Hirschprung disease. Bifid epiglottis may be an under-recognized feature of Bardet-Biedl syndrome and should be considered in these patients, particularly if there are airway symptoms. Many of the anomalies associated with bifid epiglottis have potentially serious consequences and thus, a thorough evaluation of the patient with bifid epiglottis is warranted.


Assuntos
Anormalidades Múltiplas/patologia , Epiglote/patologia , Polidactilia/patologia , Anormalidades Múltiplas/genética , Adolescente , Humanos , Hipopituitarismo/patologia , Doenças Hipotalâmicas/patologia , Lactente , Masculino , Irmãos , Síndrome
2.
Pediatr Radiol ; 34(4): 348-50, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-14605784

RESUMO

Congenital bronchobiliary fistula (CBBF) is a rare anomaly. Twenty-three cases have been reported since the anomaly was first described in 1952. Most of these cases were diagnosed by bronchoscopy, cholangiography, or hepatobiliary nuclear imaging. Our case of a newborn with bilious emesis with CBBF was depicted by T1-weighted gradient-echo MRI sequences.


Assuntos
Fístula Biliar/congênito , Fístula Biliar/diagnóstico , Fístula Brônquica/congênito , Fístula Brônquica/diagnóstico , Imageamento por Ressonância Magnética , Doenças dos Ductos Biliares/congênito , Doenças dos Ductos Biliares/diagnóstico , Doenças dos Ductos Biliares/cirurgia , Fístula Biliar/cirurgia , Broncopatias/congênito , Broncopatias/diagnóstico , Broncopatias/cirurgia , Fístula Brônquica/cirurgia , Terapia Combinada , Endoscopia do Sistema Digestório/métodos , Seguimentos , Humanos , Recém-Nascido , Laparotomia/métodos , Masculino , Medição de Risco , Índice de Gravidade de Doença , Toracotomia/métodos , Resultado do Tratamento
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