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Multiple Anomalies (multiple + anomaly)
Selected AbstractsKabuki syndrome: oral and general features seen in a 2-year-old Chinese boyINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 3 2006M. ATAR Summary., This report describes the case of a young Chinese boy with Kabuki syndrome (KS). KS is a congenital condition characterized by multiple anomalies, especially of the face, and is usually associated with mild to moderate mental retardation. The patient presented with the characteristic facial features of KS and some skeletal and neurological anomalies including a butterfly vertebrae with scoliosis, cerebral atrophy, and irregular dentition. Dental examination revealed screwdriver-shaped incisors and a high arched maxilla, features typical of patients with KS, as well as very poor oral hygiene and early childhood caries. This report includes discussion of the aetiology of KS as well as discussion of the long-term prognosis for this particular patient, and patients with KS in general, with consideration of associated dental and medical issues. [source] Hepatectomy of living donors with a left-sided gallbladder and multiple combined anomalies for adult-to-adult living donor liver transplantationLIVER TRANSPLANTATION, Issue 1 2004Shin Hwang The left-sided gallbladder is very rare, but it is often accompanied by multiple anomalies of the liver, by which living donor hepatectomy cannot be feasible or becomes difficult. We have experienced 3 donors with a left-sided gallbladder out of 642 living donors. The first case was a male donor showing bifurcating portal anomaly with intrahepatic right portal vein confluence and extremely low bifurcation of the bile ducts. The right lobe was retrieved and implanted to his father. The second case was a male donor revealing trifurcating portal anomaly with separate right posterior portal branch and replacing right posterior hepatic artery. The right posterior segment graft was retrieved and implanted to his uncle. The third case was a male volunteer in whom the anterior portion of the medial segment was fed by an aberrant branch of the right anterior segment glisson. The small left lobe was retrieved and implanted simultaneously with another living donor's left lobe graft in the form of a dual living donor liver transplantation. There was no donor morbidity or recipient complication. Although there is a high possibility of diverse liver anomalies in living donors with a left-sided gallbladder, complete preoperative evaluation and mapping of the multiple anatomical variations may make certain types of living donor hepatectomy feasible. (Liver Transpl 2004;10:141,146.) [source] Sonographic atypical vascular coiling of the umbilical cordPRENATAL DIAGNOSIS, Issue 1 2005Antonella Cromi Abstract Objective To investigate whether an atypical umbilical coiling pattern at prenatal sonography is associated with adverse pregnancy outcome. Methods A targeted sonographic evaluation of the umbilical cord (UC) was performed in 758 women with singleton gestation, and gestational age above 20 weeks. Atypical coiling was defined as the presence of a spring-shape UC (supercoiling) or an unusual, aperiodic coiling pattern (uncoordinated coiling). Umbilical artery Doppler assessment was conducted in cases with atypical coiling. Pregnancy and neonatal outcomes were investigated. Results Of the study population, 7 and 16 fetuses had an umbilical cord with uncoordinated coiling and supercoiling respectively. Three umbilical cords had a single umbilical artery. Eight patients delivered before 34 weeks of gestation. Eight fetuses were growth restricted. In seven cases, abnormal sonographic findings were detected (three meconium peritonitis, two severe hydronephrosis and two cardiac anomalies). One fetus affected by trisomy 18 presented multiple anomalies. Perinatal death occurred in three cases. Of the surviving newborns, eight were admitted to NICU. Umbilical artery Doppler waveforms presented a systolic notch in seven (30.4%) cases. Conclusions The presence of an atypical umbilical cord vascular coiling is associated with an increased risk of unfavourable pregnancy outcome. The identification of an umbilical artery notch at Doppler investigation is frequently associated with an atypical UC coiling pattern. Copyright © 2005 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20pPRENATAL DIAGNOSIS, Issue 2 2003Yi-Cheng Wu Abstract We present the first case of a fetus with pure tetrasomy 20p proven by cord-blood sampling at 24 weeks of gestation. This case was diagnosed in utero with multiple congenital anomalies including occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet. An analysis of GTG-banded chromosomes of 20 metaphase cells was performed. Female karyotype [47,XX, +i(20)(p10)] was revealed in all cells. Pure tetrasomy 20p was confirmed using fluorescent in situ hybridization (FISH) with a telomere probe for chromosome 20p in all seven metaphase cells. The pregnancy was terminated because of associated multiple anomalies and severe oligohydramnios. The postmortem examination confirmed the prenatal diagnosis. Copyright © 2003 John Wiley & Sons, Ltd. [source] Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal massPRENATAL DIAGNOSIS, Issue 5 2001Rita W. Driggers Abstract Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and autopsy of the fetus revealed multiple anomalies. Copyright © 2001 John Wiley & Sons, Ltd. [source] Coexistence of multiple anomalies in the carpal tunnelCLINICAL ANATOMY, Issue 4 2005Mary Barbe Abstract We determined the frequency of anomalous structures within the carpal tunnels of 89 cadaveric forearm-hand specimens. We also examined these same specimens for variations in the branching pattern of the median nerve, and analyzed the range in length and width of the lumbricals. Many of the hands contained extra tendinous slips from the long flexors within the tunnel, subligamentous thenar branches of the median nerve, or lumbricals with bipennate origins. Only one hand had an anomalous muscle belly within the tunnel, two had persistent median arteries, two had high division of the median nerve in the distal forearm, and eight had lumbricals with lengths or widths that were greater or less than 2 standard deviations (SD) from the mean. Twenty-nine percent of all hands examined had two to five anomalies/variations per tunnel, whereas another 27% had one anomaly or variation per tunnel. More right hands (17%) than left (11%) contained two to five anomalous/variant structures per carpal tunnel. More right hands (19%) than left (8%) contained only one variant/anomalous structure per carpal tunnel. Anticipation of the frequency and multiplicity of anomalous structures and variations within this region is of importance to clinicians, particularly surgeons. Clin. Anat. 18:251,259, 2005. © 2005 Wiley-Liss, Inc. [source] | |||||||||||||