Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature

Chien, Jen Chung; Chen, Shu Jen; Tiu, Chui Mei; Chen, Yann Jang; Hwang, Betau; Niu, Dau Ming

doi:10.1007/s00431-005-1630-2

Cited by 14 publications

(21 citation statements)

References 26 publications

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“…Therefore, it was difficult to diagnose the present case as a cloacal exstrophy variant based only on prenatal knowledge of a spinal defect. As a result, a misdiagnosis of URSMS was made due to the presence of defects in the internal and external genitalia without omphalocele (9,10). There is widespread agreement that the infra-umbilical wall defect is the predominant difference between the two diseases as the accepted mechanism of cloacal exstrophy is the failure of the primitive streak mesoderm to extend into the infra-umbilical cloacal membrane, resulting in the incomplete formation of the lower abdominal wall and omphalocele (11,12).…”

Section: Discussionmentioning

confidence: 99%

Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report

Yang

Chen

et al. 2017

Experimental and Therapeutic Medicine

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Abstract. Cloacal exstrophy variants are comprised of a wide range of characteristics, of which there are four primary features, including omphalocele, bladder exstrophy, an imperforate anus and spina bifida. The existing literature regarding the differential diagnosis from alternative urinary diseases prenatally are limited. If the bladder is present, defects in the ventral wall may not be visualized with prenatal ultrasound in certain conditions, including oligohydramnios, and differential diagnosis from urorectal septum malformation sequence is a challenge. In order to improve the diagnosis of cloacal exstrophy variants, the present study investigated the misdiagnosis of a cloacal exstrophy variant as a urorectal septum malformation in a fetus by ultrasound and analyzed the reasoning of diagnosis in detail.

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Section: Discussionmentioning

confidence: 99%

Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report

Yang

Chen

et al. 2017

Experimental and Therapeutic Medicine

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“…After the first description of complete URSM sequence by Escobar et al. (1987), to date, 73 cases of complete and more than 25 cases of partial URSM sequence have been reported (Chien et al. 2005; Patil & Phadke 2006).…”

Section: Discussionmentioning

confidence: 99%

“…However, partial and full URSM sequences should be considered as separate conditions from VATER association as these are not only distinct abnormalities, but the prognoses in these sequences are markedly different from that for VATER association. Chien et al. (2005) found that patients with URSM spectrum have a significantly higher prevalence of urinary tract defects, anal atresia, and anomalies of the genitalia than patients with VATER association.…”

Section: Discussionmentioning

confidence: 99%

Urorectal septum malformation sequence: A report of seven cases

Jain

Sharma

Kulkarni

et al. 2008

Congenital Anomalies

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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.

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“…Recently, Escobar et al [10] reported a URSMS case and discussed its etiology. Still, we should be careful in concluding whether the etiology of URSMS is exactly related to gene expression abnormalities caused by some teratogens or a gene mutation itself [11] . This issue should be clarified in the future by more specific evidence.…”

Section: Discussionmentioning

confidence: 99%

Survival in a Neonate with Complete Urorectal Septum Malformation Sequence after Fetal Vesico-Amniotic Shunting for a Prominently Dilated Cloaca

Kanamori¹,

Iwanaka²,

Nakahara³

et al. 2008

Fetal Diagn Ther

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Complete urorectal septum malformation sequence (URSMS) is usually a lethal anomaly that is characterized by urethral obstruction, imperforate anus, ambiguous genitalia, renal agenesis or dysplasia, and mullerian duct maldevelopment. This anomaly is thought to be caused by the cessation of urorectal septum migration toward the caudal cloacal membrane. Teratogenic factors or a genetic abnormality is postulated as the etiology. To date, only 4 patients with URSMS have survived the neonatal period; however, 2 of these infants died before the age of 1 year. We report the survival in a case with complete URSMS who had moderate pulmonary hypoplasia and preserved left renal function. The cloacal remnant wasdilated more than expected because the wall of the muscle layer was torn, perhaps in early fetal life, and timely placement of vesico-amniotic shunts prevented severe pulmonary hypoplasia caused by oligohydramnios.

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Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature

Cited by 14 publications

References 26 publications

Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report

Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report

Urorectal septum malformation sequence: A report of seven cases

Survival in a Neonate with Complete Urorectal Septum Malformation Sequence after Fetal Vesico-Amniotic Shunting for a Prominently Dilated Cloaca

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