1/15. Prenatal ultrasound of regional akinesia with Pena-Shokier phenotype.This report describes sonographic features of the Pena-Shokeir phenotype secondary to regional akinesia at 28 weeks of gestation with maternal perception of good fetal movement. The diagnosis was based on the findings of no fetal activity in some parts of the body (upper limbs, a part of the face, and thorax), with deformation sequence of fixed flexion at wrist, elbow, and shoulder joints, fixed open mouth, fetal growth restriction, lung hypoplasia, polyhydramnios and normal chromosome study. Surprisingly, fetal akinesia involved only the upper limbs, a part of the face, and chest, whereas the lower limbs were completely normal in both morphology and activity. With vibroacoustic stimulation, the response of fetal heart rate acceleration, gross body movement including fetal head, spine and lower limb movement were observed, but the movement of the upper limbs and fetal breathing were completely absent. Spontaneous labour and delivery occurred at 29 weeks' gestation. Postnatal autopsy confirmed the prenatal findings. In conclusion, prenatal sonography plays an important role not only in detecting Pena-Shokeir phenotype but also in providing the detailed pattern of fetal akinesia. Finally, this case reaffirms the concept that function is an integral part of normal development.- - - - - - - - - - ranking = 1keywords = breathing, upper (Clic here for more details about this article) |
2/15. Newborn with transverse facial cleft associated with polyhydramnios.We describe here the case of a female newborn baby with a bilateral complete transverse facial cleft. Obstetrical ultrasound had revealed an increased amount of amniotic fluid from 28 weeks' gestation without fetal hydrops or congenital anomalies. A 1900-g baby girl born at 36 weeks' gestation presented with bilateral wide facial clefts with macrostomia, microphthalmia, nose, and auricular deformities. Her breathing was dependent on life support, which was discontinued 2 hours after birth. An autopsy revealed no congenital malformations in vital organs but the absence of the olfactory nerves. polyhydramnios and respiratory arrest after birth were presumed to be due to central disintegration of swallowing and breathing, in this case with brain anomaly.- - - - - - - - - - ranking = 1.9900095663628keywords = breathing (Clic here for more details about this article) |
3/15. Congenital mesoblastic nephroma associated with polyhydramnios and hypercalcemia.Congenital mesoblastic nephroma (CMN) can present with atypical clinical and imaging findings. A premature male neonate was born to an 18-year-old woman after 33 weeks' gestation, which was complicated by polyhydramnios and placenta abruptio. A right abdominal mass was diagnosed antenatally. From the 1st day of life, the newborn had hypercalcemia with initially normal parathormone levels and polyuria for the first hours of life and normal urine output afterwards. Ultrasonographic study and magnetic resonance imaging of the abdomen showed at the upper pole of the right kidney a heterogeneous, solid, poorly defined mass, partially surrounded by a subcapsular fluid collection mimicking malignant rhabdoid tumor of the kidney. Surgical resection revealed a CMN of mixed, classic, and in areas, cellular type. One year after the resection, the patient is asymptomatic and normocalcemic. In conclusion, CMN may present with atypical clinical and imaging findings, necessitating an extensive work-up in order to exclude highly malignant renal tumors of the neonatal period.- - - - - - - - - - ranking = 0.0016650722728708keywords = upper (Clic here for more details about this article) |
4/15. Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomalies.Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported.- - - - - - - - - - ranking = 0.0016650722728708keywords = upper (Clic here for more details about this article) |
5/15. Intermittent 'double bubble' sign in a case of congenital pyloric atresia.We report a case of congenital pyloric atresia in which two cystic masses in the fetal upper abdomen and polyhydramnios were observed from 24 weeks' gestation to term. The two cystic masses were thought to indicate the 'double bubble' sign in utero, leading to a misdiagnosis of congenital duodenal obstruction. At 33 weeks' gestation, continuous ultrasound observation of the two cystic masses was made for 60 min. During the periods when gastric peristalsis was absent, the 'double bubble' sign was observed. However, during the periods when gastric peristalsis was present, the 'double bubble' sign disappeared. In retrospect, both cystic masses were stomach and the 'double bubble' sign disappeared with peristalsis of the antrum. In order to differentiate from congenital duodenal obstruction, whole stomach configuration should be delineated by continuous observation covering periods when gastric peristalsis is active as well as quiet.- - - - - - - - - - ranking = 0.0016650722728708keywords = upper (Clic here for more details about this article) |
6/15. Duodenal atresia with a deletion of midgut associated with left lung, kidney, and upper limb absences and right upper limb malformation.Duodenal atresia with midgut deletion without abdominal wall defects is extremely rare. The authors report a newborn boy with this disease associated with left pulmonary, kidney, and upper limb absences and a contralateral upper limb malformation. At autopsy, agenesis of the arteries to such organs was confirmed. A fetal vascular disruption is presumed to be the main cause of these anomalies.- - - - - - - - - - ranking = 0.016650722728708keywords = upper (Clic here for more details about this article) |
7/15. Cardiotocographic and sonographic findings in two cases of antenatally diagnosed intrauterine fetal brain death.Intrauterine fetal brain death is a rare cause of a fixed fetal heart rate pattern. Seven cases have been previously reported in the literature, but only two of them were diagnosed prenatally and all the newborns died soon after delivery. Two additional cases of antepartum diagnosis of intrauterine fetal brain death, managed expectantly, are reported. We had the unique opportunity to document progressive sonographic cerebral changes during the follow-up period, following the neurological event, while the fetus continued life and growth in utero. The cardiographic and sonographic findings suggesting intrauterine fetal brain death were a prolonged fixed fetal heart rate, even following a vibroacoustic and contraction stress test; an atonic fetus without breathing and body movement; and the appearance of hydramnios and the development of ventriculomegaly.- - - - - - - - - - ranking = 0.99500478318139keywords = breathing (Clic here for more details about this article) |
8/15. Congenital difficulties with swallowing and breathing associated with maternal polyhydramnios: neurocristopathy or medullary infarction?Two babies with congenital difficulties in swallowing and breathing are presented and contrasted. Both were associated with maternal polyhydramnios, but one was due to medullary infarction and the other to a malformation ("neurocristopathy"). In the former case, isolated tenth and twelfth cranial nerve palsies provided the clue as to the correct etiology, whereas the latter baby had dyscoordination of swallowing and breathing with sleep apnea ("Ondine's curse"). It is somewhat ironic that the case without a difficult delivery had the infarct, probably prenatal in onset, whereas the one with a difficult delivery had the congenital malformation. neural crest cells are known to migrate widely and to develop greatly different functions, but the fact that their central associations of neural tube origin may also be affected has not previously been emphasized in the etiopathogenesis of the congenital malformation. A variety of syndromes with combinations of many defects may be seen in which too many or too few cells are formed, with more or less serious consequences especially for the respiratory and gastrointestinal systems.- - - - - - - - - - ranking = 5.9700286990883keywords = breathing (Clic here for more details about this article) |
9/15. Increased acinar complexity with polyhydramnios.We report 4 cases that presented a contradiction in terms of intrauterine lung growth. In all cases there was increased acinar complexity despite an array of influences known to be associated with pulmonary hypoplasia. In 2 of the 4 cases the lungs were severely hypoplastic by weight. Following an analysis of the factors operative in each case regarding lung growth, we conclude that diffuse increased acinar complexity occurs in selected cases with massive polyhydramnios. The observation is of importance because it is consonant with an intimate and dynamic relationship between amniotic fluid volume, lung fluid production, and fetal breathing movements in normal intrauterine lung growth and maturation. Although lung hypoplasia is known to occur in association with polyhydramnios, the reported alterations in lung structure were not previously observed.- - - - - - - - - - ranking = 0.99500478318139keywords = breathing (Clic here for more details about this article) |
10/15. Primary pulmonary hypoplasia: report of a case with polyhydramnios.We describe a case of extreme primary pulmonary hypoplasia. No other congenital anomalies and none of the conditions known to be associated with pulmonary hypoplasia were present. pregnancy had been complicated by substantial polyhydramnios. The hypoplasia was due to a marked deficiency of the respiratory parenchyma in the presence of normal upper airways and bronchi. Virtually no parenchymal development had occurred and there were very few bronchioles, alveolar ducts, and alveoli. The changes differ from those seen in pulmonary hypoplasia secondary to congenital diaphragmatic hernia, bilateral renal agenesis, anomalies of the urinary outflow tracts, and malformations of the thoracic cavity, in which the pulmonary hypoplasia appears to be compressive in nature. While neither the etiology or pathogenesis of the pulmonary hypoplasia are apparent in this case, the presence of substantial polyhydramnios during pregnancy suggests the possibility that the developing lungs may offer an important surface area for reabsorption and recycling of constituents of amniotic fluid.- - - - - - - - - - ranking = 0.0016650722728708keywords = upper (Clic here for more details about this article) |
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