1/196. 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) |
2/196. 'Identical' twins with discordant karyotypes.A chromosomal abnormality in one of the fetuses of a monozygotic twin pregnancy is a rare phenomenon. In the prenatal unit of our cytogenetics laboratory we have recently come across two such heterokaryotypic twin pregnancies. In both cases ultrasound abnormalities were detected in one fetus of each twin pair. Chromosomal analysis showed that one twin pregnancy was discordant for trisomy 21 and the other for 45,X. Ultrasonographic examination suggested a monochorionic twin pregnancy in each case and dna studies confirmed that both sets of twins were monozygotic. Both pregnancies were terminated. Biopsies taken from different sites of the placentas showed chromosomal mosaicism in both cases. There was no clear correlation between the karyotype found close to the site of the umbilical cord insertion in the placenta and the karyotype of the fetus. Sampling of amniotic fluid from both sacs is recommended in diamniotic twin pregnancies if one (or both) of the fetuses has ultrasound abnormalities, even if the twins are apparently monochorionic.- - - - - - - - - - ranking = 149.53223965332keywords = umbilical (Clic here for more details about this article) |
3/196. 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 = 1571.6469340147keywords = umbilical artery, umbilical, artery, single (Clic here for more details about this article) |
4/196. Protracted and variable latency of acute lymphoblastic leukemia after TEL-AML1 gene fusion in utero.We report a pair of identical twins with concordant acute lymphoblastic leukemia (ALL). Unusually, their diagnoses were spaced 9 years apart at ages 5 and 14. Leukemic cells in both twins had a TEL-AML1 rearrangement, which was characterized at the dna level by an adaptation of a long distance polymerase chain reaction (PCR) method. The genomic fusion sequence was identical in the two leukemias, indicative of a single cell origin in one fetus, in utero. At the time twin 1 was diagnosed (aged 5 years), the bone marrow of twin 2 was hematologically normal. However, retrospective scrutiny of the dna from an archived slide with clonotypic TEL-AML1 primers showed that the presumptive preleukemic clone was present and disseminated 9 years before a clinical diagnosis. These data provide novel insight into the natural history of childhood leukemia and suggest that consequent to a prenatal initiation of a leukemic clone, most probably by TEL-AML fusion itself, the latency of ALL can be both extremely variable and protracted. This, in turn, is likely to reflect the timing of critical secondary events.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
5/196. coronary artery disease in identical twins.The incidence of coronary artery disease in identical twins is unknown. The knowledge of ischemic heart disease in this patient population is represented by case reports. There is considerable controversy regarding the environmental and genetic factors that play a role in the pathogenesis of this disorder. The natural history of coronary artery disease in an asymptomatic twin with a symptomatic counterpart is unclear. We present a case report and literature review of coronary artery disease in identical twins. On the basis of our patient and the information of other patients, asymptomatic twins of symptomatic counterparts require aggressive assessment and management for occult coronary artery disease.- - - - - - - - - - ranking = 12.911173232467keywords = artery (Clic here for more details about this article) |
6/196. Circumferential abdominal skin defect possibly due to umbilical cord encirclement.We report on a newborn black male twin with a distinctive circumferential abdominal skin defect who was identified through the Active Malformation Surveillance Program at the Brigham and women's Hospital. There were no other malformations, and amniotic disruption was not present. Although it cannot be proven, we believe that this skin defect may have been caused by in utero encirclement of the abdomen by an umbilical cord.- - - - - - - - - - ranking = 747.66119826662keywords = umbilical (Clic here for more details about this article) |
7/196. anatomy of a duplicated human foot from a limb with fibular dimelia.At birth, a patient presented with a right lower limb featuring preaxial polydactyly and fibular dimelia with a complete absence of the tibia. Radiographic studies of the patient's foot revealed a duplicated tarsus with eight metatarsals and toes. The three preaxial toes were surgically removed at 1 year of age. A hallux and four normal-appearing postaxial toes remained. The foot was amputated when the patient was 3 years old. dissection of the amputated foot revealed that the muscles of the dorsum were normal, except that the tendon of the extensor hallucis brevis muscle inserted into both the hallux and toe 2, rather than only into the hallux. The few abnormalities observed among the muscles on the plantar surface of the foot included absence of the insertions of the tibialis posterior and the abductor hallucis muscles. In addition, the two heads of the adductor hallucis muscle inserted abnormally into the medial (tibial) side of metatarsal 1, rather than into the lateral side. These various muscular anomalies, in addition to the mirror duplication of the foot with the presence of only a single metatarsal 1, leads us to propose that this metatarsal probably represents two lateral (fibular) halves that form a laterally duplicated bone. Although the dorsalis pedis artery was present on the dorsal surface of the foot, most of its derivatives were absent. This artery did give rise to a supernumerary medial branch that ended abruptly in the connective tissue (presumably postsurgical scar) at the medial border of the foot. This branch may have represented a duplicated dorsalis pedis artery associated with the duplicated preaxial portion of the foot. The arteries on the plantar surface of the foot were normal. Even though some anomalies in the pattern of the cutaneous innervation were observed, the nerves of the foot were largely normal. The gross and radiographic anatomy of this specimen and the radiographic anatomy of the leg suggest that some teratogenic event occurred when developmental specification reached the level of the future knee. The teratogenic event, which probably occurred early in the fifth week of development, may have caused damage that led to a lateral duplication of both the leg and the foot with the absence of some of the most medial structures. teratology 60:272-282, 1999.- - - - - - - - - - ranking = 5.8416899621751keywords = artery, single (Clic here for more details about this article) |
8/196. Paternal sex chromosome aneuploidy as a possible origin of turner syndrome in monozygotic twins: case report.The meiotic or mitotic origin of most cases of turner syndrome remains unknown, due to the difficulty in detecting hidden mosaicisms and to the lack of meiotic segregation studies. We have had the opportunity to study one pair of monozygotic twins concordant for turner syndrome of paternal origin. The paternal origin of the single x chromosome was determined by polymerase chain reaction (PCR) amplification. No mosaicism was detected for the X or y chromosome. In this case, a meiotic error during gametogenesis would be a likely origin of X monosomy. To determine if meiotic errors are more frequent in the father of these monozygotic twins concordant for turner syndrome of paternal origin, molecular studies in spermatozoa were conducted to analyse sex chromosome numerical abnormalities. A total of 12520 sperm nuclei from the twins' father and 85338 sperm nuclei from eight normal donors were analysed using three-colour fluorescent in-situ hybridization. There were significant differences between the twins' father and control donors for XY disomy (0.22 versus 0.11%, P < 0.001) and total sex chromosome disomy (0.38 versus 0.21%, P < 0.001). These results could indicate an increased tendency to meiotic sex chromosome non-disjunction in the father of the Turner twins.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
9/196. Ovarian hyperthecosis in the setting of portal hypertension.Hepatocellular dysfunction and perturbed portal hemodynamics alter steroid metabolism. Men with liver disease have gynecomastia, although women similarly affected rarely show virilization. We report a 10-yr-old girl with portal hypertension and shunting associated with precocious puberty and ovarian hyperandrogenism. This was one of premature twin girls; neither had clitoromegaly or genital ambiguity. In one child, neonatal respiratory problems led to umbilical vein catheterization with subsequent development of portal hypertension. Pubic hair was first noted at age 6 yr, breasts at 7 yr, and severe acne and clitoromegaly at 10 yr. Baseline sex hormones were elevated: androstenedione (A), 413 ng/dL; testosterone (T), 226 ng/dL; and estradiol (E2), 160 pg/mL. liver transaminases were within the normal range, however, the coagulation profile was mildly abnormal. cosyntropin adrenal stimulation revealed no steroidogenic defect. dexamethasone suppression reduced A and T slightly. LH-releasing hormone stimulation produced a pubertal rise in LH and FSH. Pelvic sonography showed a large right ovary with numerous follicles. Surgical exploration revealed symmetrically enlarged ovaries with dense capsules. histology of ovarian wedge resections showed hyperthecosis; immunohistochemistry showed stromal cells expressing steroidogenic enzymes and proteins. One month postoperatively, A and T were unchanged from baseline, whereas E2 decreased to 56 pg/mL. A single dose of depot leuprolide acetate significantly reduced T. Subsequent treatment with oral contraceptives reduced T to 50 ng/dL, and cyclical menses occurred. We conclude that precocious puberty and ovarian hyperthecosis were induced in this young girl by elevated circulating levels of sex hormones, a consequence of portasystemic shunting and impaired hepatic steroid metabolism.- - - - - - - - - - ranking = 150.53223965332keywords = umbilical, single (Clic here for more details about this article) |
10/196. Acardiac twinning where the pump twin dies in utero due to thrombosis in the umbilical arteries.A case of acardiac twinning where the pump twin dies in utero due to massive thrombotic occlusion of umbilical arteries at a site of umbilical cord stricture of the intact twin. In acardiac twinning the morbidity and mortality of the pump twin can be reduced by some invasive or medical approaches. The authors believe that in this interesting case the death of the pump twin could not be prevented by antenatal treatment.- - - - - - - - - - ranking = 897.19343791995keywords = umbilical (Clic here for more details about this article) |
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