1/47. 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 = gestation, pregnancy (Clic here for more details about this article) |
2/47. Ectopic adrenals in a sirenomelic fetus.A sirenomelic malformation was diagnosed in a fetus from the first pregnancy of a 25-year-old woman, and it was aborted at the 24th week of gestation. The fetus represented a sympus monopus. The head, organs of the neck, the thorax, and the upper part of abdominal cavity were normally formed. The kidneys, the ureters, the urinary bladder and the urethra were not developed. Adrenals of discoid shape and normal size were present in the normal position. The large bowel ended blindly in the sigmoid colon. Both testes were found in their normal position in the pelvis. Two symmetrical structures, resembling ovaries in shape and colour, were found near the testes. Histological examination established that these two organs were accessory (aberrant) adrenals.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
3/47. Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: disorganization phenotype?We report a case of a dizygotic twin with complex abnormalities of head, body, and limbs. The anomalies include the following: lateral and midline cleft upper lip, ectopic palatal pituitary, natal teeth, bilateral nasal proboscides with an absent nose, left microphthalmia with conjunctival-lined cyst, right ocular dysgenesis, bilateral retinal dysplasia, platybasia with skull asymmetry, hydrocephalus secondary to aqueductal atresia, brain hemispheric asymmetry with a parietal-occipital cortical flap, agenesis of posterior corpus callosum, absence of the olfactory nerves and left anterior cerebral artery, leptomeningeal and intraventricular heterotopias, right radial longitudinal terminal meromelia with constriction rings of fingers, partial syndactyly of the third and fourth left fingers, dorsiflexed great toes and pes equinovarus bilaterally, and multiple skin tags with a sacral appendage. Additionally, this twin's placental disc and extraplacental membranes were devoid of amnion. We regard these anomalies as a possible expression of the human homologue of the disorganization phenotype or another gene mutation. Nevertheless, an abnormality of blastogenesis with early damage to organizing tissues of the frontonasal region and limbs, or a vascular disruption, cannot be excluded. Early amnion rupture sequence (possible extraamniotic pregnancy with amniotic bands, limb reduction defects with Streeter bands, and multiple skin tags tapering into amniotic bands) was also present in this case, and may have acted as a contributing factor.- - - - - - - - - - ranking = 0.261436041109keywords = pregnancy (Clic here for more details about this article) |
4/47. Roberts-SC phocomelia syndrome.A severely growth retarded baby was born at 38 weeks gestation. He had multiple craniofacial anomalies, microbrachycephaly, phocomelia in the upper limbs and renal cysts visible on ultrasound. He died of recurrent apneas. The autopsy showed left sided multicystic dysplastic kidney and absence of one testis. Cytogenetic studies did not reveal any abnormality. The phenotypic features match those described in the Roberts-SC phocomelia syndrome. A literature review revealed that 50% of these patients have chromosomal defects and antenatal detection is possible on ultrasound and by chromosome analysis of the amniocytes.- - - - - - - - - - ranking = 0.738563958891keywords = gestation (Clic here for more details about this article) |
5/47. 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 = gestation, pregnancy (Clic here for more details about this article) |
6/47. Caudal Regression syndrome in twin pregnancy with type II diabetes.Caudal Regression syndrome (CRS) is a rare fetal complication of diabetic pregnancy, which can result in long-term neurological, urologic, and orthopedic complications. Although the exact teratogenic mechanism is not known, hyperglycemia appears to play a crucial role as a teratogen, and therefore, stringent control of diabetes preconceptually and in early pregnancy is presumed to reduce the risk of occurrence. We report an unusual case of CRS affecting only one of a set of monozygotic twins, suggesting that as yet, unidentified factors other than hyperglycemia are included in its causation.- - - - - - - - - - ranking = 1.568616246654keywords = pregnancy (Clic here for more details about this article) |
7/47. Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1).We report a female fetus of 20 weeks gestation with severe symmetrical deformity affecting all four limbs. These deformities were unusual in that there was upper limb peromelia and lower limb phocomelia. No additional major malformations were identified on postmortem examination. In particular there was no evidence of splenogonadal fusion or micrognathia and hypoglossia. The limb malformations in this case are associated with a de novo apparently balanced reciprocal translocation 46,XX,t(2;12)(p25.1;q24.1). The cytogenetic features of Roberts-SC phocomelia syndrome were not detected. Unfortunately, the fibroblast line died and no FISH or dna analysis could be carried out. In spite of this, the case is presented as it may be useful to other researchers in the selection of candidate genes for mendelian forms of peromelia and phocomelia.- - - - - - - - - - ranking = 0.738563958891keywords = gestation (Clic here for more details about this article) |
8/47. Sirenomelia sequence: first-trimester diagnosis with both two- and three-dimensional sonography.OBJECTIVE: To describe the sonographic findings of sirenomelia during the first trimester on both two-dimensional sonography with color Doppler imaging and three-dimensional sonography. methods: Two cases of sirenomelia in primiparous patients with histories of infertility are described. The diagnosis was made on the basis of two-dimensional sonography, and three-dimensional sonography was used to further characterize the findings. RESULTS: Both fetuses had size-date discrepancies, increased nuchal translucency, large intra-abdominal vessels, and 2-vessel umbilical cords. Both pregnancies were terminated by dilation and curettage after the patients viewed the three-dimensional pictures of the fetuses. CONCLUSIONS: During the first trimester of pregnancy, rare and lethal anomalies can be diagnosed with a high degree of confidence if a thorough, age-dependent anatomic survey of the fetus is performed.- - - - - - - - - - ranking = 0.261436041109keywords = pregnancy (Clic here for more details about this article) |
9/47. 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 = 1.784308123327keywords = gestation, pregnancy (Clic here for more details about this article) |
10/47. Sirenomelia, the mermaid syndrome--detection in the first trimester.The sirenomelia sequence with fusion, rotation, hypotrophy or atrophy of the lower limbs in combination with severe urogenital and gastrointestinal malformations is a rare and usually lethal disorder.We present the case of a 28-year-old woman, who was referred to our department because of an intraabdominal cystic structure in the 9th week of gestation. Subsequent scans confirmed the diagnosis of a sirenomelia sequence with the fusion of the lower extremities without fusion of the bones according to Stocker I classification. The size of the intraabdominal cyst decreased during follow-up. After counseling, termination of pregnancy was induced. The postmortem X-ray confirmed the ultrasound diagnosis.The exact etiological mechanism of this malformation is still unknown. An early alteration of the embryological vascular network damaging the caudal mesoderm is thought to lead to arrested development of the lower limbs and other affected organs. The cyst we saw in the 9th week might fit with this theory, either as an expression of the complex malformation of the lower abdomen or as the sonographic appearance of necrosis.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
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