A case of VACTEL syndrome with antenatally diagnosed duodenal atresia

Kawana, Tomonori; Ikeda, Kazuo; Nakagawara, Akiko; Kajiwara, Masatoshi; Fukazawa, Masako; Hara, Keibun

doi:10.1016/s0022-3468(89)80104-6

Cited by 10 publications

(3 citation statements)

References 14 publications

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“…Anal atresia which is also described as a common component of the association was not reported in our patient though he did have atretic distal bowel loops with proximal bowel gaseous distension. Similar features have been documented in literature where duodenal atresia rather than tracheaesophageal atresia and anorectal malformation was reported in patients with the VACTERL association [10,11].…”

Section: Discussionsupporting

confidence: 89%

Cardiac, Renal and Gastrointestinal Anomalies in a Neonate: Could this be VACTERL Association? A Case Report

Idholo

Duru

Okosun

et al. 2020

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Introduction: VACTERL association is a rare congenital defect. It is a constellation of the involvement of six systems which comprise of vertebral defects, anal atresia, cardiac defects, trachea-oesophageal fistula, renal anomalies and limb abnormalities. At least three systems should be involved before VACTERL is suspected and in many cases, it is difficult to differentiate it from other multiple congenital anomalies. Case Report: We present a day old preterm neonate who presented with respiratory distress and abdominal distension at birth. Late pregnancy ultrasound done at 34 weeks gestation showed a singleton fetus with gross ascites, dilated urinary bladder and bilateral calyceal dilatation. On examination, he had hyper-plantar flexion of the left ankle joint, ascites and a loud systolic murmur. Abdominal scan showed bilateral renal stones with medullary sponge kidneys, gaseous distension of the bowels and massive ascites. Transthoracic echocardiography showed a 10 mm ostium secundum atrial septal defect, 6 mm perimembranous ventricular septal defect and a 3 mm patent ductus arteriosus. Micturating cystourography showed a dilated posterior urethra with an appearance of a ring lucent filling defect at the membranous urethra and an irregular and beading distal urethra which was suggestive of posterior urethral valves (diaphragmatic type). Conclusion: VACTERL association occurs sporadically in most cases and presentation is varied depending on the degree of systemic affectation. Our patient presented with a constellation of congenital defects which could all fit into the criteria for VACTERL association, however because of the lack of genetic testing, it is difficult to determine if this is just a chance occurrence of multiple congenital anomalies.

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Section: Discussionsupporting

confidence: 89%

Cardiac, Renal and Gastrointestinal Anomalies in a Neonate: Could this be VACTERL Association? A Case Report

Idholo

Duru

Okosun

et al. 2020

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“…The management of triple atresia is challenging. These patients are usually managed by staged procedures but recently, a case of VACTERL syndrome with antenatally diagnosed duodenal atresia was operated successfully in one stage by radical surgery for esophageal atresia with tracheo-esophageal fistula and duodenal atresia [6]. The overall prognosis of VAC-TERL syndrome with duodenal atresia is very poor.…”

Section: Discussionmentioning

confidence: 99%

Congenital Triple Atresia of the Esophagus, Duodenum and Rectum – A Diagnostic Dilemma

Harjai

2000

Medical Journal Armed Forces India

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“…Often other anomalies can also be diagnosed by ultrasound. Kawana et al (1989) and Pameijer et al (2000) reported on the ultrasonic prenatal diagnosis of a fetus with combined duodenal and esophageal atresias associated with VACTERL anomalies. Prenatal ultrasonographic diagnosis of annular pancreas has also been reported showing the coincidence of the double bubble sign together with hyperechogenic bands around the duodenum (corresponding with the tissue of annular pancreas) (Dankovcik et al 2008).…”

Section: Prenatal Diagnosis/historymentioning

confidence: 99%