Characteristic Findings for Diagnosis of Baby Complicated with both the VACTERL Association and Duodenal Atresia

Fujishiro, Emi; Suzuki, Yukiko; Satô, Takeshi; Kondo, Satoshi; Miyachi, Masanao; Suzumori, Kaoru

doi:10.1159/000075137

Cited by 16 publications

(9 citation statements)

References 8 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 presence of anorectal atresia was not detected prenatally in the first case because of the absence of dilated colon at 23 weeks. The presence of duodenal atresia in cases of VACTERL syndrome have been reported (16,17 (19,20). Both of our cases were female and in the first case we did not find any chromosome breakage.…”

Section: Discussionsupporting

confidence: 57%

VACTERL-H syndrome: first trimester diagnosis

Dane¹,

Kayaoğlu²,

Dane³

et al. 2011

J Turkish German Gynecol Assoc

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We present two consecutive female fetuses with identical upper limb anomalies. The first of the cases was found to have ventriculomegaly, atrial septal defect, anal atresia, narrowing of the duodenal lumen and unilateral renal agenesis at the end of the second trimester. These abnormalities were characteristic of autosomal recessive VACTERL-H syndrome. The second case was diagnosed to have absent radii and thumbs at 11 weeks. Detailed examination of fetal limbs in the first trimester screening in cases with high risk is useful for early detection of this malformation. Abstract ÖzetCase Report 266

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“…Although TA and duodenal atresia are not part of the acronym of VACTERL, tracheal stenosis and tracheal atresia have been described in fetuses with features of VACTERL [3], and duodenal atresia was found in 6.3% of children diagnosed with VACTERL association [21]. So far, no causal genes for these associations have been identified yet.…”

Section: Discussionmentioning

confidence: 99%

Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature

et al. 2011

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Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed. Due to absence of a TOF, five cases were diagnosed prenatally because of congenital high airway obstruction syndrome (CHAOS). When a TOF is present, polyhydramnion and several other congenital malformations seen on the ultrasound examination should alert clinicians of potential tracheal problems. Prenatal magnetic resonance imaging (MRI) may provide a definitive diagnosis. Postnatal diagnosis is based on recognition of specific clinical signs in the newborn with TA: respiratory distress with breathing movement without appropriate air entry, no audible cry, and failed endotracheal intubation. Despite progress in surgical interventions, mortality remains high. Prenatal diagnosis of TA is possible, but only if a TOF is absent resulting in CHAOS. Prenatal diagnosis of polyhydramnion and other congenital malformation should alert clinicians of potential tracheal problems. Prenatal MRI may provide a definitive diagnosis.

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Characteristic Findings for Diagnosis of Baby Complicated with both the VACTERL Association and Duodenal Atresia

Cited by 16 publications

References 8 publications

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

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

VACTERL-H syndrome: first trimester diagnosis

Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature

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