Anorectal malformation and Down's syndrome in monozygotic twins

Roessingh, Anthony de Buys; Mueller, Claudia; Wiesenauer, Chad; Bensoussan, A; Beaunoyer, Mona

doi:10.1016/j.jpedsurg.2008.10.116

Cited by 8 publications

(3 citation statements)

References 20 publications

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“…Both these twins were initially managed by colostomies followed by laparoscopic abdominal pull through. [ 17 ] Another study by Tsoraides et al . in 2016 reported isolated type of ARM (intermediate) in male twins managed initially by transverse loop colostomy and planned anoplasty at later date.…”

Section: Discussionmentioning

confidence: 99%

Anorectal Malformations in Male Monozygotic Twins and Review of Literature

Kundal

Meena

et al. 2022

Journal of Indian Association of Pediatric Surgeons

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Anorectal malformations (ARMs) are one of the common congenital gastrointestinal malformations with a prevalence of 0.2–0.6/1000 live births. There are only a few reported cases of familial ARMs in literature suggesting different patterns of inheritance. Among them, isolated ARMs in monozygotic twins are quite rare with significant male preponderance. Most of these ARMs are either of intermediate or low anomaly type. We reported two pairs of male monozygotic isolated ARMs from a tertiary care hospital in India and reviewed the literature in details adding to the total of nine pairs of twins till date.

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Section: Discussionmentioning

confidence: 99%

Anorectal Malformations in Male Monozygotic Twins and Review of Literature

Kundal

Meena

et al. 2022

Journal of Indian Association of Pediatric Surgeons

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“…Some other congenital anomalies associated with AP in children are well recognized, with Down's syndrome representing the most common congenital chromosomal anomaly with an incidence of 10% to 30%. [ 17 ] Besides, cardiac defects, intestinal atresia, and biliary anomalies were also reported to be associated with AP. [ 18 ] Considering the infant mentioned above, although MD is understood to be one of the commonest congenital malformations, little is reported about the potential relation between AP and MD, as well as infants suffering from both AP and MD.…”

Section: Discussionmentioning

confidence: 99%

A newborn patient with both annular pancreas and Meckel's diverticulum

et al. 2018

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Rationale:Annular pancreas (AP) is recognized as a cause of duodenal obstruction in children, while children with Meckel's diverticulum (MD) are usually asymptomatic. Here we present a rare case with both AP and MD, which was identified by abdominal exploration during diamond-shaped duodenoduodenostomy.Patient concerns:A “double-bubble” sign was found by ultrasound at 35 week of pregnancy. After 39 weeks of pregnancy, the male patient was transferred to the Department of General Surgery, Children's Hospital of Soochow University because of a suspected duodenal stenosis.Diagnoses:Preoperative abdominal X-ray examination indicated “double-bubble” sign. AP was confirmed by exploratory surgery, with an MD located 30 cm above the ileocecal valve.Interventions:Diamond-shaped duodenoduodenostomy and a wedge resection of the intestine with end-to-end anastomosis were performedOutcomes:The patient recovered and his appetite was good without vomiting.Lessons:Our experience demonstrates that abdominal exploration is essential for children with gastrointestinal malformations.

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“…Intestinal perforation in the setting of ARM and Down's syndrome has been previously described by de Buys Roessingh et al . One of the monozygotic twins (both with ARM without fistula) perforated within 24 h, thus highlighting the need for extra vigilance in syndromic patients.…”

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confidence: 84%