Prune belly syndrome in Finland – A population-based study on current epidemiology and hospital admissions

Pakkasjärvi, Niklas; Syvänen, Johanna; Tauriainen, Tuomas; Hyvärinen, Anna; Sankilampi, Ulla; Leinonen, Maarit K.; Gissler, Mika; Helenius, Ilkka; Raitio, Arimatias

doi:10.1016/j.jpurol.2021.06.019

Cited by 5 publications

(3 citation statements)

References 28 publications

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“…All recorded diagnoses at FRM are evaluated, classified, and coded by a medical geneticist. If the diagnosis is unclear, more information, including patient records, photographs, radiographs, and specialist opinions, is requested from the involved hospitals, as described in previous publications [17][18][19] . Multiple national and international investigations have validated the accuracy and high degree of coverage of these data [20][21][22] .…”

Section: Methodsmentioning

confidence: 99%

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Maternal Risk Factors for Congenital Vertebral Anomalies

Raitio

Heiskanen

Syvänen

et al. 2023

Journal of Bone and Joint Surgery

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Background: The spectrum of congenital vertebral defects varies from benign lesions to severe, life-threatening conditions. The etiology and maternal risk factors remain mainly unclear in isolated cases. Hence, we aimed to assess and identify potential maternal risk factors for these anomalies. Based on previous studies, we hypothesized that maternal diabetes, smoking, advanced maternal age, obesity, chronic diseases, and medication used during the first trimester of pregnancy might increase the risk of congenital vertebral malformations. Methods:We performed a nationwide register-based case-control study. All cases with vertebral anomalies (including live births, stillbirths, and terminations for fetal anomaly) were identified in the Finnish Register of Congenital Malformations from 1997 to 2016. Five matched controls from the same geographic region were randomly selected for each case. Analyzed maternal risk factors included age, body mass index (BMI), parity, smoking, history of miscarriages, chronic diseases, and prescription drugs dispensed during the first trimester of pregnancy.Results: In total, 256 cases with diagnosed congenital vertebral anomalies were identified. After excluding 66 malformations associated with known syndromes, 190 nonsyndromic malformation cases were included. These were compared with 950 matched controls. Maternal pregestational diabetes was a significant risk factor for congenital vertebral anomalies (adjusted odds ratio [OR], 7.30 [95% confidence interval (CI), 2.53 to 21.09). Also, rheumatoid arthritis (adjusted OR, 22.91 [95% CI, 2.67 to 196.40]), estrogens (adjusted OR, 5.30 [95% CI, 1.57 to 17.8]), and heparins (adjusted OR, 8.94 [95% CI, 1.38 to 57.9]) were associated with elevated risk. In a sensitivity analysis using imputation, maternal smoking was also significantly associated with an elevated risk (adjusted OR, 1.57 [95% CI, 1.05 to 2.34]).Conclusions: Maternal pregestational diabetes and rheumatoid arthritis increased the risk of congenital vertebral anomalies. Also, estrogens and heparins, both of which are frequently used in assisted reproductive technologies, were associated with an increased risk. Sensitivity analysis suggested an increased risk of vertebral anomalies with maternal smoking, warranting further studies.Level of Evidence: Prognostic Level III. See Instructions for Authors for a complete description of levels of evidence. Congenital vertebral malformations are typically classified as defects of formation (hemivertebra), defects of segmentation (unilateral bar), and a mixed group 1 . Congenital spinal deformities vary from those that require only observation after identification to challenging spinal deformities including scoliosis or kyphosis, with or without fused ribs, resulting in potentially life-threatening pulmonary insufficiency 2 and spinal cord deficits 3 . Fully segmented hemivertebrae represent the most common indication for a surgical procedure in patients with congenital scoliosis, often necessitating hemivertebrectomy at an early age 4 , w...

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Section: Methodsmentioning

confidence: 99%

“…T H E J O U R N A L O F B O N E & JOINT SURGERY d J B J S . O R G VOLUME 105-A d NUMBER 14 d J U LY19, 2023 …”

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confidence: 99%

Maternal Risk Factors for Congenital Vertebral Anomalies

Raitio

Heiskanen

Syvänen

et al. 2023

Journal of Bone and Joint Surgery

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“…Also referred to as Eagle-Barrett syndrome, 1 it is a rare congenital condition occurring in approximately one in 40,000 live births, with an incidence of 3.6 per 100,000 live births in the United States. [2][3][4][5][6] First described by Frolich in 1839 in a patient with congenital absence of abdominal wall musculature, 7 it occurs primarily in boys and occasionally in girls with a milder presentation. 8 The three main features of patients with PBS are abdominal-wall flaccidity with different stages of abdominal musculature hypoplasia, urologic anomalies, and bilateral cryptorchidism.…”

Section: Introductionmentioning

confidence: 99%

Combined Double-breasted Full-thickness Abdominal Flap Plication and Acellular Dermal Matrix in Prune-belly Syndrome Reconstruction

Baccarani,

Pappalardo,

Ceccarelli

et al. 2024

Plastic and Reconstructive Surgery - Global Open

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Background: Reconstruction of the abdominal wall in patients with prune-belly syndrome (PBS) following previous intra-abdominal procedures is a challenging problem with a high incidence of revision due to persistent bulging or herniation. The abdominal wall flaccidity not only produces a severe psychological and aesthetic discomfort for the patient but often determines functional disabilities, including inability to cough properly, impaired bowel and bladder function, and delay in posture and balance. Methods: The authors describe three cases of reconstruction of abdominal wall using a modified double-breasted abdominoplasty fascial plication with additional acellular dermal matrix interposition and review the literature for innovations in the use of abdominal repair for reconstruction of these difficult cases. Results: Three children with PBS at a mean age of 7.3 years achieved successful reconstruction of the abdominal wall, using the modified double-breasted abdominoplasty fascial plication with acellular dermal matrix interposition. Patients underwent previous procedures, including orchiopexy in two patients and bilateral nephrectomy in one patient. No postoperative complications have been found, apart from superficial skin dehiscence along the abdominal incision treated conservatively in one child. At mean follow-up of 42 months (range 28–56 months), no patient presented incisional hernia, persistent or recurrent fascial laxity with abdominal bulging. All patients achieved significant aesthetic and functional improvements, including children’s ability to cough, spontaneous gain of abdominal tonus, balance, and ambulation. Conclusion: Modification of the original vertical, two-layer plications of the deficient abdominal interposing biological mesh has the purpose of improving strength, aesthetics, and function of the abdominal wall in pediatric patients with PBS.

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