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Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of syndromic and single gene disorders associated with fetal megacystis which is useful for genetic counseling at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Colon; Fetal Diseases; Urinary Bladder; Intestinal Pseudo-Obstruction; Duodenum
PubMed: 38216263
DOI: 10.1016/j.tjog.2023.11.007 -
Hinyokika Kiyo. Acta Urologica Japonica Aug 1989Two autopsy cases of prune belly syndrome are reported. In Japan, 111 cases have been reported. Abdominal muscle deficiency or hypoplasia, urinary tract abnormalities... (Review)
Review
Two autopsy cases of prune belly syndrome are reported. In Japan, 111 cases have been reported. Abdominal muscle deficiency or hypoplasia, urinary tract abnormalities and cryptorchidism are usually recognized. Case 1 was a female stillborn at 33 weeks' gestation and case 2 was a male stillborn at 21 weeks' gestation. Both cases had anomalies of genitourinary and digestive system. There was anatomic obstruction of external urethral orifice in case 1 and overriding urethra in case 2 which meant functional obstruction. In relation to the pathogenesis, we propose the important role of the urethral obstruction, whatever anatomic or functional. Further examination of the lower urinary tract including serial section analysis might be necessary to identify the pathogenesis of prune belly syndrome.
Topics: Female; Fetal Death; Humans; Infant, Newborn; Male; Pregnancy; Prune Belly Syndrome; Urethral Obstruction
PubMed: 2683657
DOI: No ID Found -
Clinical Medicine (London, England) Jun 2016
Topics: Child; Humans; Infant, Newborn; Kidney Failure, Chronic; Kidney Transplantation; Prune Belly Syndrome; Retrospective Studies
PubMed: 27252342
DOI: 10.7861/clinmedicine.16-3-s5 -
Case Reports in Urology 2022We report a term male neonate presenting with a "prune belly," bilateral hydronephrosis, hydroureter, posterior urethral obstruction, and bilateral undescended testes....
We report a term male neonate presenting with a "prune belly," bilateral hydronephrosis, hydroureter, posterior urethral obstruction, and bilateral undescended testes. Analysis with the whole genome SNP microarray revealed an interstitial deletion of about 1.49 megabase (MB) at chromosome 17q12. We present a rare association of prune belly syndrome with a chromosomal deletion in this same region.
PubMed: 35198258
DOI: 10.1155/2022/7364286 -
Journal of Neonatal Surgery 2016Prune belly syndrome is a rare abnormality; its association with VACTERL is even rarer. This association has been reported in literature a few times since first reported...
Prune belly syndrome is a rare abnormality; its association with VACTERL is even rarer. This association has been reported in literature a few times since first reported in 1993 and so far the majority have either been stillbirths or died shortly after birth. We present a case of Prune belly syndrome associated with VACTERL who is now one year old.
PubMed: 27433451
DOI: 10.21699/jns.v5i3.337 -
Journal of Surgical Case Reports Oct 2023We present a case of simultaneous second-stage Fowler-Stephens Orchiopexy (FSO) with microvascular testicular autotransplantation for cryptorchidism and in a patient...
We present a case of simultaneous second-stage Fowler-Stephens Orchiopexy (FSO) with microvascular testicular autotransplantation for cryptorchidism and in a patient with prune belly syndrome. At 5 months old, the patient underwent laparoscopic bilateral first-stage FSO with the right testicle located 1 cm from the liver and the left slightly more caudal. An ultrasound on postoperative Day 72 following second-stage FSO and microvascular autotransplantation showed patent testicular vasculature. Our experience shows that this combination technique is safe and effective to supercharge the testicle and augment collateral vessels if clinical suspicion for monotherapy failure is high.
PubMed: 37901606
DOI: 10.1093/jscr/rjad588 -
Archives of Disease in Childhood Nov 1982Forty-seven cases of prune belly syndrome in children born between 1948 and 1977 are described. They have been classified into three groups according to the state of the...
Forty-seven cases of prune belly syndrome in children born between 1948 and 1977 are described. They have been classified into three groups according to the state of the urinary tract in the neonatal period. The results achieved in these cases form the basis of our present management. In group I, the most severely affected, early death is inevitable. In group 2 the children are ill as neonates; high diversion is often required and later reconstruction may be possible. Group 3 patients are healthy as neonates and little reconstructive surgery is required. The prognosis in groups 2 and 3 is good. Half the group 2 children and three-quarters of the group 3 children grew up normally with satisfactory renal function and health. It is important to establish free drainage of the urinary tract and avoid infection.
Topics: Adolescent; Adult; Child; Child, Preschool; Cryptorchidism; Humans; Male; Prognosis; Prune Belly Syndrome; Puberty; Urethra; Urethral Obstruction; Urinary Diversion
PubMed: 6128960
DOI: 10.1136/adc.57.11.856 -
Urology Annals Oct 2013Association between Prune belly syndrome (PBS) and urethral hypoplasia is an unusual condition. It is usually fatal unless there is a communication between the fetal...
Association between Prune belly syndrome (PBS) and urethral hypoplasia is an unusual condition. It is usually fatal unless there is a communication between the fetal bladder and the amniotic sac. We report a case of PBS with urethral hypoplasia and congenital vesico-cutaneous fistula in a male neonate. Patient underwent cutaneous vesicostomy and was discharged for close follow up of his renal function and for future reconstruction.
PubMed: 24311916
DOI: 10.4103/0974-7796.120299 -
European Journal of Medical Genetics Mar 2018Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature,...
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but genetic factors are implicated given its recurrence in families. We examined cases of PBS to identify novel pathogenic copy number variants (CNVs). A total of 34 cases (30 males and 4 females) with PBS identified from all live births in New York State (1998-2005) were genotyped using Illumina HumanOmni2.5 microarrays. CNVs were prioritized if they were absent from in-house controls, encompassed ≥10 consecutive probes, were ≥20 Kb in size, had ≤20% overlap with common variants in population reference controls, and had ≤20% overlap with any variant previously detected in other birth defect phenotypes screened in our laboratory. We identified 17 candidate autosomal CNVs; 10 cases each had one CNV and four cases each had two CNVs. The CNVs included a 158 Kb duplication at 4q22 that overlaps the BMPR1B gene; duplications of different sizes carried by two cases in the intron of STIM1 gene; a 67 Kb duplication 202 Kb downstream of the NOG gene, and a 1.34 Mb deletion including the MYOCD gene. The identified rare CNVs spanned genes involved in mesodermal, muscle, and urinary tract development and differentiation, which might help in elucidating the genetic contribution to PBS. We did not have parental DNA and cannot identify whether these CNVs were de novo or inherited. Further research on these CNVs, particularly BMP signaling is warranted to elucidate the pathogenesis of PBS.
Topics: Adult; DNA Copy Number Variations; Female; Genotype; Humans; Infant, Newborn; Male; Phenotype; Prune Belly Syndrome; Sequence Analysis, DNA; Young Adult
PubMed: 29174092
DOI: 10.1016/j.ejmg.2017.11.008 -
Journal of Clinical Neonatology Jan 2012Prune belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology. Many associations of PBS with other malformations were previously reported, but only few...
Prune belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology. Many associations of PBS with other malformations were previously reported, but only few cases of the association with VACTERL have been described. We report a rare case of a Moroccan new born with PBS and complete VACTERL association. The cause of this association is still unknown, but a common etiology is possible, especially when for the two syndromes, a defect in mesodermal differentiation, in early first trimester, has been suggested.
PubMed: 24027688
DOI: 10.4103/2249-4847.92234