Research Letter Concordant Partial Urorectal Septum Malformation Sequence in Monozygotic Twins (original) (raw)
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Ultrasound in Obstetrics and Gynecology, 2000
Urorectal septum malformation sequence (URSMS) is a rare congenital malformation, which includes ambiguous genitalia, a phallus-like structure, imperforate anus, bladder, vaginal and rectal fistulas and Mu È llerian duct defects. We report two cases of prenatally diagnosed URSMS, both occurring in two sets of discordant twins. To the best of our knowledge, this is the first antenatal description of such an anomaly. The first fetus, one of a set of monochorionic, monoamniotic twins was detected sonographically at 21 weeks of gestation due to an enlarged phallus-like formation. The second fetus, one of dichorionic, diamniotic twins, was suspected of having an abnormally enlarged rectum at 13 weeks of gestation. The diagnosis of URSMS was established at 29 weeks of gestation by showing abnormal female external genitalia, with a dilated bowel that contained echogenic foci due to enterolithiasis. The diagnosis of both cases was confirmed postnatally. Sonographic findings and differential diagnosis are presented.
Concordant partial urorectal septum malformation sequence in monozygotic twins
American Journal of Medical Genetics, 2006
The partial urorectal septum malformation (URSM) sequence is defined as a single The mother, a 19-year-old caucasian woman, gravida 1, para 0, perineal/anal opening that drains a common cloaca presented to the Ultrasound Unit of The Department of Medical Genetic and Fetal Medicine at 18 weeks of spontaneous pregnancy in combination with an absent (imperforate) anus. for routine screening. There was no family history of congenital
A newborn with caudal duplication and duplex imperforate anus
Journal of Pediatric Surgery, 2013
There are case reports of duplication of the colon, rectum, anus, urinary system, lower genital tract, and external genitalia, spinal anomalies, and abdominal wall defects. However, it is rare to encounter a single newborn with all of the mentioned abnormalities, which have been defined as the caudal duplication syndrome (CDS). Herein, we present a newborn with an omphalocele, duplex external genitalia (with duplex labia minora and labia majora), duplex urethral orifices, duplex vaginal orifices, and duplex anal dimple with imperforate anus and rectovestibular fistula on both sides. Exploration revealed duplex appendix, colon duplication, duplex uterus (continuing with tuba and ovaries on both sides), duplex rectum, malrotation of the intestines, with the cecum located in the middle of the abdomen, defect in the intestinal mesentery, and internal herniation of the small intestines through this defect. The intestines were operatively reduced and the defect repaired.
Urorectal septum malformation sequence: Prenatal progression, clinical report, and embryology review
American Journal of Medical Genetics Part A, 2007
The urorectal septum malformation sequence (URSMS) is characterized by severe abnormalities of the urorectal septum (URS) and urogenital organs. The primary defect in this condition appears to be a deficiency in caudal mesoderm leading to the malformation of the URS and other structures in the pelvic region. Recent clinical reports discuss prental findings of URSMS [Lubusky et al. (2006); Prenatal Diagnosis 26: 345-349]. However, here we present a case of URSMS with prenatal findings not previously described, review the literature on URSMS, and summarize current embryological understanding of the pathology seen in hindgut development. The unique prenatal finding in the patient was an abdominally located cystic mass that was first seen at 18 weeks of gestation. Over the next 6 weeks, the mass decreased in size until it disappeared. Concurrent with reduction of the cyst, ascites developed. The patient displayed several traditional URSMS indicators including abnormal bladder and dysplastic kidneys. Our findings give additional insight into the embryology of urorectogenital development. Specifically, they suggest that the cystic mass may have been a persistent urachus prior to septation of the cloaca. Postnatal evaluation confirmed a URSMS diagnosis; the newborn had ambiguous genitalia, hypoplastic kidneys, absent uterus, imperforate anus, smooth perineum, and overall underdeveloped urogenital structures.
American Journal of Perinatology Reports, 2014
Cloaca is one of the most complex and severe degrees of anorectal malformations in girls, in which the vagina, rectum, and urinary tract merge into a common channel leading to a single external orifice. We report a case of cloaca prenatally diagnosed in one of a set of monoamniotic twins. This observation underlines the difficulties of making a precise prenatal diagnosis and confirms the impact of an adequate amniotic fluid volume on fetal lung development.
Congenital Anomalies of Urinary Tract and Anomalies of Fetal Genitalia
InTech eBooks, 2018
Congenital anomalies of the kidney, urinary tract and genitalia anomalies are among the most frequent types of congenital malformations. Many can be diagnosed by means of ultrasound examination during pregnancy. Some will be discovered after birth. Kidney and urinary malformations represent 20% of all birth defects, appearing in 3-7 cases at 1000 live births. Environmental factors (maternal diabetes or intrauterine exposure to angiotensinconverting enzyme inhibitors) and genetic factors (inherited types of diseases) seem to be among causes that lead to the disturbance of normal nephrogenesis and generate anomalies of the reno-urinary tract. It is very important to diagnose and differentiate between the abnormalities incompatible with life and those that are asymptomatic in the newborn. The former requires interruption of pregnancy, whereas the latter could lead to saving the renal function if diagnosed antenatally. In many cases, the congenital anomalies of the urinary and genital tract may remain asymptomatic for a long time, even up until adulthood, and can be at times the only manifestation of a complex systemic disease. Some can manifest in more than one member in the family. This is the reason why the accurate genetic characterization is needed; it can help give not only the patient but also her family the appropriate genetic counseling, and also, in some cases, the management may prevent severe complications.