1/54. prenatal diagnosis of dyssegmental dysplasia. A case report.BACKGROUND: Since the first use of sonography, most fetal dwarfism has been detectable prenatally. The correct differentiation of the subtype of dwarfism is difficult at times. Dyssegmental dysplasia is probably an exception to these subtypes because the vertebral disorganization and occipital encephalocele at times permits prenatal diagnosis. CASE: A 34-year-old woman, gravida 3, para 1, elective abortion 1 for dwarfism, was referred at 27 weeks' gestation for cystic hygroma. Further sonographic findings included: cystic hygroma with massive ascites, micromelia, occipital encephalocele, spinal disorganization and hydramnios. The fetus and both parents appeared to have a normal karyotype. Later the pregnancy was terminated with vaginal delivery. The fetus had micromelia, camptomelia, cystic hygroma, a flat face, short neck, short trunk, narrow thorax with protuberant abdomen, scoliosis and clubfeet. CONCLUSION: Sonography is effective in prenatal diagnosis of dyssegmental dysplasia. With sonography, diagnosis of dyssegmental dysplasia becomes possible as early as the first trimester.- - - - - - - - - - ranking = 1keywords = abdomen (Clic here for more details about this article) |
2/54. Prenatal sonographic features of embryonal rhabdomyosarcoma.We describe a case of fetal rhabdomyosarcoma detected during the third trimester of pregnancy by prenatal sonography. At 33 weeks' gestation, sonography performed because of suspected polyhydramnios showed a solid mass of 120 x 54 mm arising from the anterior wall of the fetal thoracic cage. Another mass within the left maxillary area which originated from the left orbital floor was also detected. In the abdomen, there were multiple round masses in and around the liver. As the previous scan at 28 weeks had appeared normal, the multiple masses which became visible and enlarged rapidly in different locations led us to believe that there was fetal cancer. The most likely diagnosis was rhabdomyosarcoma (which was later confirmed), because it is the most prevalent soft-tissue tumor in children and may develop within or outside muscle anywhere in the body and at any age. Two other reported cases which were detected by prenatal ultrasound examination are also discussed.- - - - - - - - - - ranking = 1keywords = abdomen (Clic here for more details about this article) |
3/54. Intrauterine volvulus without malrotation associated with segmental absence of small intestinal musculature.A case of intrauterine intestinal volvulus without malrotation is presented, and 9 other cases from the world literature are reviewed. Bloody diarrhea, bluish discoloration of the abdominal wall (Cullen's sign), and a tense abdomen in neonates suggest midgut volvulus requiring prompt surgical management. On pathological examination, the neck of the twisted bowel in this case showed a half-circle defect of the intestinal muscle. This suggests that a segmental defect of the intestinal musculature could be secondary to volvulus.- - - - - - - - - - ranking = 1keywords = abdomen (Clic here for more details about this article) |
4/54. Congenital ileal atresia presenting as a single cyst-like lesion on prenatal sonography.A routine prenatal sonographic examination at 37 weeks' menstrual age revealed a large sonolucent lesion with peristaltic movement in the abdomen of a fetus. After birth, the female infant showed progressive abdominal distention, and radiography showed a bubble-like dilatation of the small intestine. Exploratory laparotomy revealed ileal atresia with nearby partial torsion of the dilated small bowel. The incomplete torsion may have functioned as a check valve, inducing segmental dilatation of the ileum without proximal dilatation.- - - - - - - - - - ranking = 1keywords = abdomen (Clic here for more details about this article) |
5/54. prenatal diagnosis of QT prolongation by magnetocardiography.magnetocardiography constitutes a new tool for monitoring fetal cardiac activity. The fetal magnetocardiogram (FMCG) recorded noninvasively over the maternal abdomen is detectable with high temporal resolution and permits analysis of all parts of the PQRST waveform. In this way measurements of cardiac time intervals, including the QT interval, become possible. The following article constitutes the first report of antenatal detection of QT prolongation in two fetuses by FMCG.- - - - - - - - - - ranking = 1keywords = abdomen (Clic here for more details about this article) |
6/54. prenatal diagnosis of campomelic dysplasia.A pregnant woman of 24 weeks' gestation underwent ultrasound examination for fetal anomaly screening. The ultrasound findings revealed a single fetus with biparietal diameter of 61 mm, which was consistent with menstrual dates. The thoracic cage was small compared to the abdomen with hypoplastic scapulae and normally ossified unfractured ribs. All bony structures demonstrated normal echogenicity. The upper long bones were normal length and shape. Both femurs and tibiae were obviously bowed anteriorly, and slightly shortened. Bilateral talipes equinovarus were clearly demonstrated. A prenatal diagnosis of campomelic dysplasia was made and was confirmed by postnatal radiography and autopsy. The sonographic diagnosis in this case was based on the findings of small thorax, hypoplastic scapulae and bowed tibiae and femurs.- - - - - - - - - - ranking = 1keywords = abdomen (Clic here for more details about this article) |
7/54. Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible.- - - - - - - - - - ranking = 1keywords = abdomen (Clic here for more details about this article) |
8/54. Congenital microvillous inclusion disease presenting as antenatal bowel obstruction.Prenatal ultrasound has led to confidence in the antenatal diagnosis of intestinal obstruction allowing counseling and birth planning. We describe a male infant of a diabetic mother who had an antenatal diagnosis of distal bowel obstruction. This baby was subsequently found not to have bowel obstruction, but a congenital enteropathy - microvillous inclusion disease. The antenatal scans had demonstrated polyhydramnios as well as multiple fluid-filled dilated loops of bowel in the fetal abdomen. To our knowledge, similar prenatal ultrasound findings have not been previously described in this condition. The baby was delivered in a pediatric surgical center and postnatally there was no evidence of bowel obstruction either clinically or on abdominal X-ray. This baby initially fed well, but became collapsed and acidotic on his third day, having lost 26% of his birth weight due to excessive stool loss. The diagnosis of microvillous inclusion disease was made by electron microscopy of a small bowel biopsy. Congenital microvillous inclusion disease is a very rare inherited enteropathy with high mortality and morbidity. This condition, and other enteropathies, should be considered in cases in which antenatally diagnosed bowel obstruction is not confirmed after birth.- - - - - - - - - - ranking = 1keywords = abdomen (Clic here for more details about this article) |
9/54. Prenatal sonographic diagnosis of axillary cystic lymphangiomas.Cystic lymphangiomas are congenital malformations of the lymphatic system that occur most commonly in the nuchal region. Nuchal lymphangiomas are often referred to as cystic hygromas. Few cases of axillary cystic lymphangioma have been reported, but the prognosis of this lesion appears to be less grave than that of its nuchal counterpart. We present 2 cases of axillary cystic lymphangiomas that were diagnosed on prenatal sonography. In 1 case, prenatal sonography showed a multilocular, large cystic mass on the fetal left side, in the area of the lower chest and upper abdomen. The mass extended from at least the level of the umbilicus up to the neck but did not involve the neck. In the second case, prenatal sonography showed a multilocular, septate axillary cystic lymphangioma external to the chest with no flow on Doppler sonography. Follow-up sonography revealed normal fetal growth and enlargement of the cystic mass surrounding the left humerus. Both infants were delivered without complications and have been managed conservatively.- - - - - - - - - - ranking = 1keywords = abdomen (Clic here for more details about this article) |
10/54. Prenatal sonographic diagnosis of Neu-Laxova syndrome.We report the sonographic diagnosis of Neu-Laxova syndrome in a fetus at 27 weeks' menstrual age. The parents were first cousins. Sonography revealed microcephaly, a sloping forehead, exophthalmos, a small thorax and abdomen, hypoplastic lungs, syndactyly, hyperextended knees, polyhydramnios, a small placenta, and intrauterine growth restriction. The long bones were normal. The calvaria was hyperechoic and associated with shadowing, obscuring any intracranial abnormalities. This sonographic finding was presumed to represent calvarial calcification, not previously described with this syndrome. We believe that Neu-Laxova syndrome can be reliably diagnosed prenatally by demonstrating the sonographic features described, although other conditions with similar sonographic features need to be considered in the differential diagnosis.- - - - - - - - - - ranking = 1keywords = abdomen (Clic here for more details about this article) |
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