1/14. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories.We aimed to discuss the prenatal diagnosis and pathological features of sirenomelia, and to review current embryogenic theories. We observed two sirenomelic fetuses that were at the 19th and 16th gestational week respectively. In the former, transvaginal ultrasound revealed severe oligohydramnios and internal abortion, whereas bilateral renal agenesis, absence of a normally tapered lumbosacral spine, and a single, dysmorphic lower limb were detected in the latter. In both cases, x-rays and autoptic examination allowed categorization on the basis of the skeletal deformity. Subtotal sacrococcygeal agenesis was present in both cases. Agenesis of the urinary apparatus and external genitalia and anorectal atresia were also found. classification of sirenomelia separately from caudal regression syndrome is still debated. Recent advances in the understanding of axial mesoderm patterning during early embryonic development suggest that sirenomelia represents the most severe end of the caudal regression spectrum. Third-trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios related to bilateral renal agenesis, whereas during the early second trimester the amount of amniotic fluid may be sufficient to allow diagnosis. Early antenatal sonographic diagnosis is important in view of the dismal prognosis, and allows for earlier, less traumatic termination of pregnancy.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
2/14. Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with fraser syndrome.We describe a 25-week-old female fetus of consanguineous parents with ultrasonographic findings of increased echogenicity of lungs mimicking CAM (cystic adenomatoid malformation) type III, olygohydramnios and fetal ascites. A therapeutic abortion was performed and unilateral cryptophthalmos, laryngeal atresia and bilateral syndactyly of the hands and feet were observed at post-mortem. These findings confirmed the diagnosis of fraser syndrome after abortion.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
3/14. Urethral atresia in a neonate with alveolar capillary dysplasia and pulmonary venous misalignment.Urethral atresia and alveolar capillary dysplasia (ACD) are rare congenital malformations. Urethral atresia is associated with severe pulmonary hypoplasia secondary to oligohydramnios. ACD is associated with pulmonary venous misalignment, results in severe pulmonary hypertension, and is uniformly fatal. We present a case of urethral atresia with successful, early placement of vesicoamniotic shunting, with resolution of the oligohydramnios, in which the neonate rapidly progressed to respiratory failure and death. Postmortem examination confirmed urethral atresia and diagnosed ACD. Given the surprisingly high mortality rate after vesicoamniotic shunting in patients with urethral atresia, we question whether there might be a possible link to ACD.- - - - - - - - - - ranking = 9keywords = atresia (Clic here for more details about this article) |
4/14. First-trimester diagnosis of sirenomelia. A case report.We report a case of sirenomelia diagnosed at 13 gestational weeks. This rare malformation sequence is characterized by fusion and rotation of the lower limbs to various degrees and anorectal atresia, usually associated with absence of bladder and agenesis or dysgenesis of the kidneys. Diagnosis is commonly made later in the second trimester of pregnancy with oligohydramnios as the alerting sign. survival is extremely rare, and only possible in the absence of bilateral renal agenesis. In view of the dismal prognosis, early diagnosis allows for earlier and less traumatic therapeutic abortion.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
5/14. A case of severe Ebstein's anomaly with incompetent pulmonary valve.A case of Ebstein's anomaly with functional pulmonary atresia diagnosed in utero is presented. The diagnosis was confirmed by postnatal echocardiographic, angiographic, and postmortem pathologic findings. On echocardiography the septal leaflet of the tricuspid valve was displaced towards the right ventricular apex. The tricuspid valve was moderately regurgitant and the arterial duct was patent. Continuous wave or color Doppler revealed serious reduction in forward flow from right ventricle through the pulmonary arteries; however, massive pulmonary regurgitation was observed. pulmonary circulation was dependent on the ductal flow due to functional pulmonary atresia. angiography revealed the massively enlarged right atrium, the absence of forward flow through the tricuspid valve, transfer of contrast material through the atrial septal defect to the left atrium, and the retrograde inflow of the pulmonary arteries from the aorta via the patent arterial duct. Ebstein's anomaly accompanied by functional pulmonary atresia is very rare. The fetal and neonatal presentation of this anomaly is associated with poor outcome.- - - - - - - - - - ranking = 3keywords = atresia (Clic here for more details about this article) |
6/14. Sirenomelia in uneventful pregnancy.A rare case of sirenomelia at 38 weeks of gestation is reported. Fusion of the lower extremities and incomplete development of the bony pelvis was associated with agenesis of the urinary and genital systems, anorectal atresia and a single large umbilical artery. There was complete situs inversus of the single lower limb. This was composed of two partially fused femurs, a common tibia without fibula, and a rudimentary foot having three metatarsal bones and their corresponding toes. The present case was also interesting for its association with hypoplasia of the lungs. The pathogenesis of sirenomelia is discussed.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
7/14. oligohydramnios and megacolon in a fetus with vesicorectal fistula and anal-urethral atresia: a case report.Severe oligohydramnios and extremely dilated bowel filled with hyperechogenic material floating in fluid were the ultrasonographic findings in a fetus at 27 weeks' gestation. Vesicorectal communication and urethral-anal atresia permitted urine to empty into the colon, causing megacolon, oligohydramnios, and markedly increased intraabdominal pressure resulting in pulmonary hypoplasia.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
8/14. A case report: vesico-rectal fistula with ano-urethral atresia.Vesico-rectal fistula is a rare congenital abnormality causing severe early second trimester oligohydramnios. prenatal diagnosis of such a case is reported here. Ultrasound diagnosis could be aided by transabdominal amnio-infusion and, if necessary, fetal intraperitoneal saline installation. In a karyotypically normal fetus with normal somatic growth, demonstration of normal fetal kidneys together with a functioning urinary bladder, in presence of severe oligohydramnios, is very suggestive of the diagnosis. Since pulmonary hypoplasia is the major cause of neonatal mortality in these cases, restoration of normal amniotic fluid volume by serial amnio-infusion was attempted. Although amnio-infusion is an important diagnostic aid in the evaluation of severe midtrimester oligohydramnios, the role of multiple therapeutic amnio-infusion in improving lung growth remains to be evaluated.- - - - - - - - - - ranking = 4keywords = atresia (Clic here for more details about this article) |
9/14. Vertebral hypersegmentation in a case of the VATER association.Associations are statistical clusterings of malformations not known to be polytopic field defects, sequences, or syndromes. The VATER association is a nonrandom association of malformations including vertebral, anal, cardiovascular, tracheoesophageal, genitourinary, and limb defects. The caudal "dysplasia" sequence of lumbosacral vertebral defects, genitourinary abnormalities, and imperforate anus overlaps the VATER association. The cloacal membrane agenesis sequence is a pattern of malformations resulting in the absence of anal, genital, and urinary orifices with associated malformations in surrounding structures. We report on a 37-week gestation liveborn male with oligohydramnios deformations, tetralogy of fallot, "H-type" tracheoesophageal fistula, duodenal atresia, imperforate anus, urethral atresia, undescended testes, absent right kidney with a small dysplastic left kidney, a "cloacal-like" abnormality of the bladder and distal bowel, and thoracic and lumbar vertebral hypersegmentation. This patient has manifestations of the VATER association, the caudal dysplasia sequence, and the cloacal membrane agenesis sequence. We propose that some of his defects may represent a malformation sequence secondary to excessive embryonic flexion resulting from vertebral hypersegmentation.- - - - - - - - - - ranking = 2.1754680056099keywords = atresia, anus (Clic here for more details about this article) |
10/14. Two cases of a fetus with sirenomelia sequence.We report two cases of a fetus with sirenomelia sequence which showed oligohydramnios and a single umbilical artery. The first case was of a single fetus with symelia apus and only one leg. prenatal diagnosis of this case was possible. The second case was of a dichorionic-diamniotic twin pregnancy in which one fetus had symelia dipus with two fused lower extremities. prenatal diagnosis of the condition was not made. In both cases, the fetuses died shortly after birth from respiratory distress due to severe pulmonary hypoplasia. Absence of urinary tract, imperforate anus, and spine deformity were confirmed in both cases. Although prenatal diagnosis of symelia dipus seems difficult, this condition must be considered in a fetus with severe oligohydramnios.- - - - - - - - - - ranking = 0.087734002804973keywords = anus (Clic here for more details about this article) |
| | Next -> |