Partial Urorectal Septum Malformation Sequence Research Articles

Urorectal Septum Malformation Sequence With Retroperitoneal Neuroblastoma: A Case Report of an Unusual Association.

Urorectal septum malformation sequence (URSMS) is an uncommon disease characterized by a failure of the anorectal septum to divide the cloaca and fuse with the cloacal membrane. Complete URSMS is usually lethal in newborn due to severe renal dysfunction and pulmonary hypoplasia. Partial URSMS is compatible with life with a single perineal opening draining a common cloaca with an imperforate anus which amenable to surgical management. Antenatal diagnosis of URSMS is challenging because of multisystem, complex abnormalities involving gastrointestinal, urogenital tract, cardiovascular, and musculoskeletal systems. In this case report, we describe a 15-week male fetus with partial URSMS having a spectrum of multisystem structural anomalies associated with fetal neuroblastoma in retroperitoneal location and adrenal neuroblastoma in situ.

Prenatal ultrasound manifestations of partial urorectal septum malformation sequence from the first trimester to postnatal: a case report

BackgroundUrorectal septum malformation sequence (URSMS) is characterized by incomplete partitioning of the genital, rectal, and urinary tracts, resulting in a severe form of anorectal malformation. The partial URSMS, also known as the persistent cloaca, represents a milder variant where a single perineal opening serves as a passage for the urinary, gastrointestinal, and reproductive tracts.Case presentationWe present a rare case of partial URSMS accompanied by duplicated vagina and uterus, hydronephrosis, ascites, and anal atresia.ConclusionsThis case report describes the sonographic findings at different stages of pregnancy and their changes throughout gestation.

Penile hypoplasia associated with anorectal malformation: What should we call this condition?

Background: Urogenital abnormalities are common in patients with anorectal malformations (ARM). The wide spectrum of urogenital abnormalities and ARM sometimes make it difficult to name the conditions simply. Case Presentation: We experienced a case of penile hypoplasia associated with the urethrorectal communication. Conclusion: From the viewpoint of urogenital anomalies, we might call this condition “aphallia variant” or “absent penis spectrum”. On the other hand, from the viewpoint of ARM, we might call this condition “male posterior cloaca” or “partial urorectal septum malformation sequence”. More important than naming them is understanding the clinical conditions precisely.

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

Abstract The concurrence of Urorectal Septum Malformation (URSM) Sequence and Prune Belly Syndrome are extremely uncommon, with increased rarity with the coexistence of an oesophageal atresia with tracheoesophageal fistula. The URSM is denoted by an absence of perineal/anal orifices together with ambiguous genitalia, urogenital, colorectal and lumbosacral anomalies. A persistent cloaca or a partial URSMS entails a single anal/perineal opening that drains the urethra, vagina and rectum. Prune belly syndrome (PBS) encompasses the triad of urological connective tissue anomalies, absence or weakened abdominal walls, and cryptorchidism. In patients that do not fulfil the complete criteria a term pseudo-prune belly syndrome (PPBS) is used. The Prune belly spectrum is associated with poor prognosis due to pulmonary and renal complications. We discuss a rare case of a neonate with pseudo-prune belly syndrome, partial urorectal septum malformation and oesophageal atresia with tracheoesophageal fistula.

EP12.13: A case of partial urorectal septum malformation sequence with a very small lower abdominal cyst and review of literature

Background: Partial urorectal septum malformation sequence is a rare congenital malformation of urorectal septum dysplasia and failure of the breakdown of th cloacal membrane, is characterised by abnormalities of the ambiguous genitalia, urogenital organs, a single perineal/anal opening that drains a common Cloaca, and absent anus. We report a case of partial urorectal septum malformation sequence, who was suspected on pregnancy ultrasound scan at 24+6 weeks' gestation in our department and confirmed upon delivery. Case presentation: A 19-year-old married woman, Gravida 1 Para 0, presented to antenatal clinic of Cheng Du Women and Children's Central Hospital, Si Chuan province, China, at 24+6 weeks' gestation by dates, when ultrasound examination was performed, showing a very small common cloaca in the lower abdomen, absence of bladder, ambiguous genitalia and imperforate anus. Both mother and clinicians agreed on termination of pregnancy. The mother spontaneously delivered a dead female fetus weighing 1085 grams at 25+4 weeks' gestation after amniotic cavity injection rivanol, who had multiple congenital anomalies including imperforate anus, smooth perineum, absence of normal urethral and vaginal openings, absent bladder, uterus, vagina, and urethra, in combination with a very small common cloaca opening in the perinea and myelomeningocele in the sacral vertebrae. Conclusion: The characteristic features of the URSMS in ultrasonography are relate to the type of the URSMS, not all URSMS along with very dilated cystic regions in the abdomen.

Epidemiology of partial urorectal septum malformation sequence (or ‘persistent cloaca’): a population-based study in seven regions of England and Wales, 1985–2010

BackgroundPartial urorectal septum malformation (pURSM) sequence (or ‘persistent cloaca’) is a rare congenital anomaly characterised by a joining of the urethral, anal, and genital openings into a single common channel....

Partial urorectal septum malformation sequence in a kitten with disorder of sexual development

A 2-month-old kitten exhibited simultaneously an imperforate anus, hypospadias, rectourethral fistula and genital dysgenesis (penis restricted to the glans, absence of prepuce and bifid scrotum). Surgical correction consisted of separation of the urinary and digestive tracts, perineal urethrostomy and connection of the rectum to the newly made anal opening. Pathological examination of the testes, conventionally removed at 9 months of age, showed no mature spermatozoa and underdevelopment of germ and Leydig cells. In humans, the absence of an anal opening in association with abnormal sexual development defines the urorectal septum malformation sequence. Here, we describe the first case of this syndrome in a kitten with a normal male karyotype (38,XY) and a normal coding sequence for the SRY gene. Both the rectourethral fistula and observed genital abnormalities might have been induced by a disturbance in the hedgehog signalling pathway. However, although four polymorphic sites were identified by DHH gene sequencing, none cosegregated with the malformation.

Prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence in a female newborn with absent perineal openings.

Prune belly syndrome (PBS) is a rare congenital anomaly characterized in males by a triad of anomalous genitourinary tract, deficient development of abdominal wall muscles, and bilateral cryptorchidism. Although similar anomalies have been reported in females, by definition they do not full fill the classical triad. Urorectal septum malformation sequence (URSM) is a lethal condition characterized by presence of ambiguous genitalia, absent perineal openings (urogenital and anal), and lumbosacral abnormalities. In this original case report, the authors discuss the presentation and management of what would be analogous to a Woodhouse category 1 PBS in a female newborn associated with an overlapping presentation of URSM.

Ascites, hydrocolpos, hydrometrocolpos with normal amniotic fluid in a fetus with partial urorectal septum malformation sequence

Urorectal septum malformation sequence (URSMS) describes a range of anatomic anomalies in the urogenital and lower gastrointestinal organs caused by incomplete urorectal membrane septation and persistence of the cloacal membrane. Partial URSMS is a milder version characterized by a single perineal opening. We report a case of partial URSMS that associated an intact Mullerian system, single perineal opening, blind colon, imperforate anus and vagina, urethrovaginal connection, and ambiguous genitalia. Hydrocolpos, hydrometrocolpos, and ascites were seen in utero and confirmed on postnatal surgery. This case describes the changes in sonographic findings that evolved throughout the gestation.

Then and now: Past Opitz winners discuss the influence of the award on their careers

Then and now: Past Opitz winners discuss the influence of the award on their careers

Urorectal septum malformation sequence: A report of seven cases

Urorectal septum malformation (URSM) sequence is an extremely uncommon anomaly. We report herein seven cases of URSM sequence that were identified after reviewing all autopsies conducted at our hospital over a period of 26 years (1981-2006). The URSM spectrum includes partial and full URSM sequences. Absent perineal and anal openings with ambiguous genitalia are included under 'full URSM sequence', and a single perineal or anal opening draining a common cloaca with an imperforate anus is called 'partial URSM sequence'. Of our seven cases of URSM, three were full URSM sequence and four were partial URSM sequence. Associated renal anomalies were found in all of the cases. Three cases had unilateral renal agenesis and one each had bilateral renal agenesis and bilateral renal dysplasia, respectively. The remaining two cases had unilateral renal agenesis with contralateral kidney showing features of cystic dysplastic kidney and renal hypoplasia, respectively. Congenital anomalies involving other organs were also found in some of the cases. The longest survival period in our series was 10 days, in accordance with the short survival period usually associated with URSM. Five of the patients were females, one was male, and the sex of one neonate could not be ascertained. One of the neonates was from a twin pregnancy; the other twin was normal.

Concordant partial urorectal septum malformation sequence in monozygotic twins

The urorectal septum malformation (URSM) sequence is defined as the absence of the perineal and anal opening in association with ambiguous genitalia and urogenital, colonic, and lumbosacral anomalies. The URSM sequence is usually lethal in the newborn period due to pulmonary hypoplasia resulting fromsevere oligohydramnios. The abnormalities of this condition are though to arise early in development due to incomplete subdivision of the primitive cloaca and lackof breakdownof the cloacal membrane [Escobar et al., 1987; Wheeler et al., 1997]. A less severe form of URSM sequence is referred to by Wheeler and Weaver [2001] as the partial URSM sequence. Individuals with a partial URSM sequence typically have a single perineal/anal opening that serves as an outlet for a common cloaca and conduit for urine and feces to the outside. It is important to differentiate the partial from the full URSM sequence because the prognosis in the partial URSM sequence is generally good, with long-term survival a common feature. In this article we report a case of monozygotic twins concordant for the milder and generally nonlethal form of the URSM sequence. Monozygotic twinning with this condition has not been previously reported. The mother, a 19-year-old Caucasian woman, gravida 1, para 0, was presented to the ultrasound unit of the department of medical genetics and fetal medicine at 18 weeks of spontaneous pregnancy for routine screening. There was no family history of congenital malformations. The mother denied teratogenic exposure. On sonographic examination, a monochorionic, diamniotic twin pregnancy was diagnosed. Twin A had dilated distal bowel loops with enterolithiasis (an ultrasonographic examination revealed an echogenic bowel with multiple foci of calcified meconium intraluminally). Twin B had dilated distal bowel loops. A possible diagnosis of anal atresia was made. The genitalia could not be clearly determined. In view of the abnormal sonographic findings, amniocentesis was performed. Both fetuses had a normal 46,XY karyotype. The patient was referred to the high-risk clinic. Fetal biometry was appropriate for gestational age and a normal amount of amniotic fluid was observed. To further exclude anorectal malformation, magnetic resonance imaging (MRI) was performed which demonstrated dilated distal bowel loops (with enterolithiasis in twin A). The parenchyma of the kidneys and urinary bladder appeared normal. The twins were delivered by cesarean at 35 weeks of gestation after premature membrane rupture. TwinA weighed 1,950 g, twin B weighed 2,350 g. Postpartum examination revealed close placental insertions of both umbilical cords, each containing three vessels. Over a length of 25 cm the umbilical cords, separated by amniotic membranes, ran in such close proximity that they appeared to have a common course. The monochorionic, diamniotic twin pregnancy was confirmed and concordant fetal abnormalities were diagnosed. Both neonates had a single

Urorectal septum malformation sequence: Ultrasound correlation with fetal examination

To correlate prenatal and postnatal findings of urorectal septum malformation sequence and to study spectrum of malformation. Nine cases were reviewed with features suggestive of urorectal septum malformation (URSM) sequence. Associated anomalies were studied. Sex of the fetus was assigned by karyotype when available or by examination of internal genitalia. Out of nine cases 5 fetuses were male and 4 were female. Gestational age ranged from 14 to 34 weeks. Six cases were complete URSM sequence and 3 were partial URSM sequence. Associated anomalies of other systems were seen in 4 cases. In one case karyotype was 47, XXY. Cases with severe oligohydromnios with or without distended bladder, URSM sequence should be suspected, as this condition is usually lethal. Non-visualization of bladder, presence of hydronephrosis, multicystic kidneys or distended gut loops suggests the possibility of URSM sequence. The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present.

Fetal enterolithiasis: prenatal sonographic and MRI diagnosis in two cases of urorectal septum malformation (URSM) sequence

Enterolithiasis (multiple calcifications of intraluminal meconium) is a rare, prenatal ultrasonographic finding. In this study, our aim was to evaluate the prenatal diagnostic features and discuss the management of the patients. The data of two cases of prenatally diagnosed fetal enterolithiasis were collected from ultrasound scan, magnetic resonance imaging (MRI) and neonatal or postnatal autopsy records. The findings were evaluated in both prenatal and postnatal periods. Chromosomal analysis was performed in one case. An evaluation of primary and secondary malformations was done. Coexisting anomalies were searched for via radiology, neonatal surgery and histopathology. Malformations in two cases (both males) with partial and complete urorectal septum malformation (URSM) sequence were described. The absence of an anal opening and presence of a fistula between the urinary and gastrointestinal tract were common findings. These features were considered as primary malformations contributing to the formation of enterolithiasis. Secondary anomalies (urinary and gastrointestinal system malformations, pulmonary hypoplasia, genital and other coexisting anomalies) were evaluated. The prenatal detection of enterolithiasis carries a poor prognosis. Most of the previously reported cases were invariably associated with major fetal malformations of the urinary and gastrointestinal tract. It is a warning sign for large bowel obstruction with or without enterourinary fistula. Therefore, adequate gastrointestinal and urologic studies must be undertaken after birth for the final diagnosis. There is a high mortality rate in the reported cases, mostly attributed to associated anomalies, and all survivors required neonatal surgery. It is important to differentiate the partial from the full URSM sequence because the prognosis in the partial URSM sequence is generally good, with long-term survival being common.

P63 Coordinates Anogenital Modeling and Epithelial Cell Differentiation in the Developing Female Urogenital Tract

p63 is a p53 homologue required for cutaneous development that is expressed in immature squamous epithelium and reserve cells of the cervix. Humans with p63 mutations exhibit defects in limb, accessory organ (skin appendage, breast, prostate), and genitourinary development. Because p63 expression patterns imply a strong role of the gene in the female genital tract development, newborn female p63-/-, +/-, and +/+ mice were examined in situ, dissected, and compared. Nuclear p63 protein was localized to the skin, vagina, bladder, urethra, and basal columnar cells of the caudal uterus in p63+/+ and +/- animals. p63-/- mice exhibited abnormal genital morphogenesis with hypoplastic genitalia, a single cloacal opening, and persistence of columnar epithelium at lower genital tract sites that normally undergo squamous and urothelial differentiation. The defects observed support p63-dependent pathways of genital tract development that permit externally, ectodermal basal cell replenishment integral to reciprocal epithelial stromal signaling, urorectal septation, and modeling of the external genitalia; and internally, the emergence of basal epithelial cell populations capable of divergent epithelial cell differentiation in the vagina, cervix, and urinary tract. Defects in the first pathway explain imperforate anus, vaginal septum, genital hypoplasia, and micropenis reported in humans with p63 mutations. The second is necessary for the generation of multipotential reserve cells in the cervix and may be operative in other epithelial stromal interactions integral to the emergence of uterine basal cells later in life.

Partial urorectal septum malformation sequence: a report of 25 cases.

We have identified 25 cases with what we are calling the partial urorectal septum malformation (URSM) sequence, which were seen in our institution over the past 27 years. The partial URSM sequence is defined as a single perineal/anal opening that drains a common cloaca in combination with an absent (imperforate) anus. In the 25 patients reported here, the partial URSM sequence was more common in females, with a female to male ratio of 18 to 7. Ambiguous genitalia were common in both sexes. Internal pelvic structures typically showed a cloaca with the bladder and rectum (and vagina in females) coalescing into a common canal that connected to the external surface in the perineal or anal area. Abnormalities of the internal genitalia were also common, with 12 females having a bifid or septate vagina and 11 having a bicornuate uterus. Renal anomalies were frequent in both sexes, with 10 of 25 patients having unilateral cystic renal dysplasia and 7 of 25 patients having unilateral renal agenesis. Twenty-one of 25 patients survived long term. By definition, the partial URSM sequence is a milder expression of the full URSM sequence, which is defined as having no perineal or anal openings and is typically associated with an internal cloaca. The URSM spectrum, which encompasses the partial and full URSM sequences, is believed to be caused by abnormalities of septation of the primitive cloaca. The URSM spectrum is distinct from the VATER association and conditions caused by sex hormone abnormalities, such as congenital adrenal hyperplasia.