A fanconi-bickel syndrome patient with a novel mutation and accompanying situs inversus totalis
نویسندگان
چکیده
منابع مشابه
A Rare Case of Dextrocardia with Situs Inversus Totalis in a Patient of Diabetic Mother
Infants of diabetic mothers are significantly at higher risk for major congenital malformations, with cardiovascular anomalies that is the most frequent. In this study, we presented a rare case of dextrocardia and situs inversus totalis (mirror-image dextrocardia) with multiple congenital heart anomalies who was born from a diabetic mother.
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INTRODUCTION The association of situs inversus totalis (SIT) and VACTERL syndrome an extremely rare coincidence. PATIENTS The patient was first diagnosed as simple SIT with lumbosacral neoplasms according to the prenatal magnetic resonance imaging (MRI) examination; however, the local hospital ignored the important to physical examination so that missed anal atresia with fistula. The patient ...
متن کاملMirror image hepatectomy in a patient with situs inversus totalis.
BACKGROUND Hepatectomy in a patient with situs inversus patient is technically challenging because of its complete mirror image anatomy, especially for a tumor located deep in the liver. Incorrectly identifying intrahepatic vessels and biliary system would lead to serious complications. We experienced a hepatectomy for a tumor in a patient with situs inversus totalis with referring to computer-...
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We present a case of cystic lymphangioma of the mediastinum complicated with situs inversus totalis. The 70-year-old man underwent thoracoscopic resection of a mediastinal cystic tumor, which was diagnosed as cystic lymphangioma. Cystic lymphangiomas are congenital cystic abnormalities of the lymphatic system. The head and neck area is often involved while the mediastinum is rarely affected. Th...
متن کاملLeft-sided appendicitis in a patient with situs inversus totalis
Situs inversus totalis is a rare inherent disease in which the thoracic and abdominal organs are transposed. Symptoms of appendicitis in situs inversus (SI) may appear in the left lower quadrant, and the diagnosis of appendicitis is very difficult. We report a case of left-sided appendicitis diagnosed preoperatively after dextrocardia that was detected by chest X-ray, although the chief complai...
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ژورنال
عنوان ژورنال: The Turkish Journal of Pediatrics
سال: 2017
ISSN: 0041-4301
DOI: 10.24953/turkjped.2017.06.012