1/870. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
2/870. Congenital diaphragmatic hernia: report of three cases.Three cases of congenital diaphragmatic hernia (CHD) are presented with special emphasis on a neonate with an unusual combination of abnormalities. It was noted that in all three the hernias were of the Bochdaleck's type. CDH may not always be a single isolated failure of closure of the pleural peritoneal hiatus but a more complex multi organ anomaly.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
3/870. An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
4/870. diagnosis of twin reversed arterial perfusion sequence in the first trimester by transvaginal color Doppler ultrasound.A case of twin reversed arterial perfusion (TRAP) sequence was diagnosed at 12 weeks' gestation using transvaginal color Doppler ultrasound, which demonstrated the presence of retrograde perfusion in the umbilical artery of the abnormal twin. Ultrasound imaging showed a monochorionic-diamniotic twin pregnancy with an inappropriately grown second twin, the morphological evaluation of which revealed an abnormal cephalic pole with acrania, diffuse subcutaneous edema and the presence of cardiac activity in an abnormal heart with a single chamber.- - - - - - - - - - ranking = 252.21969460265keywords = umbilical artery, umbilical, artery, single (Clic here for more details about this article) |
5/870. Right aortic arch with aberrant left innominate artery: MR imaging findings.A rare case of a 60-year-old man with a right aortic arch and aberrant left innominate artery is presented. This case had an unusual clinical presentation. The dysphagia appeared suddenly in adulthood, whereas vascular rings, when symptomatic, usually manifest early in childhood. To our knowledge, MR imaging findings of this anomaly have never been reported. The diagnosis was made by MR imaging and confirmed by surgery. magnetic resonance imaging can replace angiography in the assessment of the aortic arch anomalies.- - - - - - - - - - ranking = 28.607524880871keywords = artery (Clic here for more details about this article) |
6/870. Radial club hand with absence of the biceps muscle treated by centralisation of the ulna and triceps transfer. Report of two cases.Two children with radial club hand and absence of the biceps muscle were treated by centralisation of the ulna into the carpus and triceps transfer. The two operations were performed only a short time apart so that the period between the procedures could be used to stretch the triceps and to enable the children to adapt to an altered position of the wrist and to mobility of the elbow at one step and following a single period of plaster immobilisation. It is very likely that function is better than it would have been had the condition remained untreated. Before operation the children had only a crude hook function of the hand against the forearm and could not bring the hand to the mouth. Even if function is not much improved, the improvement in appearance is considerable and is by itself sufficient to justify the procedures.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
7/870. The Scheibe cochlea deformity with macrocephaly: a case for single channel implantation.An 11-year-old congenitally deaf child with bilateral primitive common cavity (Scheibe type) cochleosaccular dysplasia and benign familial macrocephaly was implanted with an extracochlear single channel device with an ear level speech processor. This paper describes the assessment, findings, dilemmas in decision making, surgical procedure and the favourable outcome after implanting. The relevant literature has been reviewed and our case is presented for the unusual combination of features.- - - - - - - - - - ranking = 5keywords = single (Clic here for more details about this article) |
8/870. Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.The cases of two patients with Robinow fetal face syndrome, an 11-year-old Thai boy and a newborn Caucasian girl, are described. The Thai boy had the characteristics typical of the dominant type of the syndrome with a few newly recognized signs, including communicating hydrocephalus, underdeveloped sinuses, short roots of the teeth, narrow and thick-floored pulp chambers, hypoplastic nipples, absent middle phalanges of the second to fifth toes, cone-shaped epiphyses of the second and fourth fingers and fifth toes, single creases of the fourth and fifth fingers, clinodactyly of the third fingers, dysmorphic umbilicus, and shawl scrotum. The girl had anomalies typical of the recessive type of the syndrome. She also had capillary hemangioma at the tip of her nose and hypoplastic fourth metatarsal bones, which are the newly recognized features of the recessive type. Infrequently reported clinical manifestations of the syndrome are discussed.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
9/870. Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man.A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
10/870. First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly.We report a case of Cantrell's pentalogy with exencephaly detected by sonography at 11 weeks 4 days' menstrual age and confirmed at autopsy. Cantrell's pentalogy consists of defects of the lower sternum, anterior diaphragm, midline supraumbilical abdominal wall, and diaphragmatic pericardium with ectopia cordis. Exencephaly involves acrania with a disorganized mass of brain tissue. Both conditions are rare; the combination of the 2 has been reported only twice before. To our knowledge, this is the earliest reported diagnosis of the 2 conditions by prenatal sonography.- - - - - - - - - - ranking = 22.203740217664keywords = umbilical (Clic here for more details about this article) |
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