RESUMO
Congenital High Airway Obstruction Syndrome (CHAOS) is a potential lethal condition. We describe a case report of CHAOS, with additional malformations diagnosed at 20 weeks. Autopsy findings are suggestive for Fraser syndrome (cryptophthalmos-syndactyly syndrome; OMIM 219000). The diagnosis was confirmed by mutation analysis of FRAS1.
Assuntos
Feto Abortado/patologia , Obstrução das Vias Respiratórias/patologia , Síndrome de Fraser/diagnóstico , Adulto , Obstrução das Vias Respiratórias/congênito , Obstrução das Vias Respiratórias/diagnóstico por imagem , Autopsia , Feminino , Síndrome de Fraser/complicações , Síndrome de Fraser/genética , Humanos , Gravidez , Síndrome , Ultrassonografia Pré-NatalRESUMO
We present the MR-findings in two cases of omphalocele in two second trimester pregnancies. Fast MR sequences were performed on a 1.5 T magnet. Both patients underwent previous evaluation with sonography. The findings were confirmed with MR and additional information about the severity and location of the anomaly were demonstrated. The MR images provided adequate anatomical detail of the major abdominal viscera to evaluate the content and extent of the disease.
Assuntos
Hérnia Umbilical/diagnóstico , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Parede Abdominal/patologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Aborto Eugênico , Adulto , Feminino , Hérnia Umbilical/patologia , Humanos , Recém-Nascido , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da GravidezRESUMO
A case of a congenital anomaly of the urinary tract in a 25-year-old Caucasian male is presented. Preoperative and pathologic findings demonstrated an ectopic ureter which terminated in a seminal vesicle cyst. Both structures formed an abortive common duct at the bladder base. The ipsilateral kidney was dysplastic. Findings on voiding cytourethrography, spiral CT, and MRI are discussed and correlated with pathologic findings. The authors suggest that MRI, especially with the use of 3D sequences, is the examination of choice in the evaluation of a complex congenital urogenital anomaly as presented.