Exome sequencing offers an efficient and affordable method to interrogate genetic factors involved in human disease. Performing exome sequencing of monozygotic twins discordant for VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities) association-type congenital malformations was hypothesized to potentially reveal...

OBJECTIVE To compare the distribution of congenital anomalies within the VACTERL association (vertebral defects, anal atresia, cardiac, tracheoesophageal, renal, and limb abnormalities) between patients exposed to tumor necrosis factor-α (TNF-α) antagonist and the general population. METHODS Analysis for comparison of proportional differences to a previous publication between anomaly subgroup...

Objective: To explore prenatal ultrasound diagnosis of VACTERL syndrome and partial caudal regression syndrome. Methods: 60 patients with VACTERL syndrome and partial caudal regression syndrome treated in our hospital during September 2011 to December 2013 were retrospectively analysed. The prenatal sonographic of patient was analysed taking the postpartum result as a standard. Results: Prenata...

VACTERL association is a rare disorder with various congenital malformations. The aetiology remains unknown. Combination of at least three congenital anomalies of the following criteria is required for diagnosis: vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, renal anomalies, and limb defects. The first case was 1-day old male neonate with multiple congenital an...

The VACTERL association, co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, is a rare congenital anomaly. Several cardiac anomalies have been reported as a part of the VACTERL association, particularly ventricular and atrial septal defects. Pulmonary artery sling is a rare congenital abnormality in which the left pulmonary artery arises fro...

Association of vertebral, anal, cardiac, tracheoesophageal, renal and  limb anomalies (VACTERL) is rare anomaly with an incidence of 1.6 per 10000 births. This condition is a combination of anomalies recognized  as a hereditary entity with poor prognosis. Herein, we report VACTERL association presenting with auricle atresia. A male neonate with a birth weight of 2690 grams, head circumference 3...

Herein, we present a case of coexisting neuroendocrine carcinoma and conventional adenocarcinoma (collision tumor) in the ampulla of Vater, which has seldom been reported in the literature. A 51-year-old man presented with a month history of jaundice. MRCP disclosed about 1.9×1.8 cm sized heterogeneously enhancing mass in ampulla of Vater, causing obstructions of distal common bile duct. He und...

Ziel: Patienten mit einem Marfan-Syndrom benötigen eine regelmäßige Bildgebung zur Detektion von Aneurysmen der Aorta ascendens. Ziel dieser Studie war es, die Reproduzierbarkeit von Messungen des Sinus valsalvae mittels Cine-MRT und Echokardiografie an Patienten mit Verdacht auf Marfan-Syndrom zu untersuchen. Material und Methoden: 51 konsekutive Patienten mit Verdacht auf Marfan-Syndrom wurde...

â  the ampulla of vater is commonly located in the posteromeâ­dial wall of the second portion of the duodenum. at times, the ampulla of vater may be found at uncommon sites such as the third and fourth portions of the duodenum, the duodenal bulb and the stomach. we found the ampulla of vater in the pyloric channel in a 44 year old patient who had undergone surgery for acute cholecystitis. an in...