Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence in a Female Newborn with Absent Perineal Openings

Farooqui, Azhar; Alaqeel, Alaa; Zayeni, Habib

doi:10.1155/2014/746323

Cited by 4 publications

(2 citation statements)

References 17 publications

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“…23,44,45,52 On the other hand, the syndrome may affect only one fetus in monozygotic twin pregnancies, suggesting that it is not purely an inherited disorder. 34,35,53,54 PBS has also been posited to be associated with trisomy 2 and deletions in chromosome 6’s long arm. 55,56…”

Section: Discussionmentioning

confidence: 99%

Prune-belly syndrome in Africa: An analysis and systematic review of cases, etiology, treatment, and outcomes

Keet

Henry

Tubbs

2020

Journal of Clinical Urology

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Background: Prune-belly syndrome is a rare congenital disorder characterized by a spectrum of three anomalies: bilateral undescended testes, dilated urinary tract, and anterior abdominal muscle deficiency. Objectives: In developing countries, inadequate access to health care may affect treatment and outcomes of prune-belly syndrome. This study’s goal was to review the anatomical features, etiology, genetics, management, and outcomes of cases in Africa. Methods: PubMed was searched to identify case reports and case studies describing prune-belly syndrome in Africa. Data collected from each study included the number of cases, age at diagnosis, sex, description of the abdominal muscles, testes, and urinary tract, as well as associated anomalies, management, and long-term outcomes. Results: A total of 16 publications that reported 58 cases in African countries were included. The prevalence of female patients (15.5%) was higher than in developed countries (3%). The abdominal muscles were deficient in all cases, and bilateral cryptorchidism was present in nearly all males (96%). Distension of the bladder was common, with normal anatomy reported in only one case. Bilateral hydroureters and hydronephrosis also were present in the majority of cases. Only six cases (10.3%) had no associated anomalies, such as musculoskeletal or cardiovascular. Karyotyping was performed in only three cases (5.2%) because of limited hospital facilities. Six parents (10.3%) declined treatment for their children, 12 cases (20.7%) were managed conservatively, and 25 (43.1%) received surgical intervention. Patients’ mortality rate was higher than in developed countries. Conclusion: Diagnosis and treatment of prune-belly syndrome remains a challenge in Africa, in which multiple factors, such as access to health care and cultural beliefs, affect mortality rates and outcomes. Patient education and support groups may improve compliance with treatment. Level of evidence: Not applicable for this multicenter audit.

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Section: Discussionmentioning

confidence: 99%

Prune-belly syndrome in Africa: An analysis and systematic review of cases, etiology, treatment, and outcomes

Keet

Henry

Tubbs

2020

Journal of Clinical Urology

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“…The sigmoid colon, the ureters and the fallopian tubes opened into a common cloacal sac and the histopathological examination of the ovaries indicated the presence of Leydig cells. Later, Farooqui et al described a 34-week-old female twin fetus with absent anterior abdominal wall muscles, hydrometrocolpos, distended urinary bladder, moderate hydronephrosis, hydroureter, and linear streaked calcifications in the hypoplastic left kidney ( 8 ). Despite several surgical interventions, this newborn was lost at the third postpartum month.…”

Section: Discussionmentioning

confidence: 99%

An autopsy case report: prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence

İşgüder

Pektaş²,

Köseoğlu³

et al. 2018

TJPATH

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Prune belly syndrome (PBS) is characterized by a classical triad of congenitally absent abdominal muscles, bilateral cryptorchidism, and a malformed urinary tract. Urorectal septum malformation sequence (URSM) is identified with the absence of urogenital and anal openings. This case report describes a 15-week-old female fetus with megacystis, ascites and oligohydramnios in a 19-year-old nulliparous woman. The patient underwent preterm labor at the 33 rd gestational week and delivered a female newborn weighing 2250 grams who died three days later due to progressive respiratory insufficiency. To the best of our knowledge, this is the third case of an overlap between PBS and URSM in literature. Such an overlap refers to the existence of left renal agenesis, right renal cystic dysplasia, bilateral club foot and lumbar scoliosis as well as the absence of abdominal wall muscles, internal genital organs, urethral, vaginal and anal openings. This case report aims to remind the obstetricians about the concurrent occurrence of PBS with URSM and its poor prognosis.

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Partial urorectal septum malformation sequence with prune belly syndrome and oesophageal atresia with a tracheoesophageal fistula

Mashavave

Harrison

Grieve

2019

Journal of Pediatric Surgery Case Reports

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Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence in a Female Newborn with Absent Perineal Openings

Cited by 4 publications

References 17 publications

Prune-belly syndrome in Africa: An analysis and systematic review of cases, etiology, treatment, and outcomes

Prune-belly syndrome in Africa: An analysis and systematic review of cases, etiology, treatment, and outcomes

An autopsy case report: prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence

Partial urorectal septum malformation sequence with prune belly syndrome and oesophageal atresia with a tracheoesophageal fistula

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