1/39. Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic paraplegia, dysarthria, brachydactyly type E, and cone-shaped epiphyses. During the last 11 years a report of only one other patient with this syndrome has been published; hence, its phenotypic delineation may be only partial. Although our patients might expand the phenotypic spectrum of this syndrome, they may represent a new disorder.- - - - - - - - - - ranking = 1keywords = spectrum (Clic here for more details about this article) |
2/39. An unusual presentation of constriction band syndrome.Congenital constriction band syndrome is a rare entity with a wide spectrum of associated congenital anomalies. review of the pathogenesis and an unusual case of constriction band syndrome in a newborn are presented. Surgical excision of the deformity and the band was performed within the first week of life. There were no vascular or neural structures within the excised tissue, and there were no other associated anomalies other than dextrocardia and an equinovarus deformity of the foot. The wound was closed primarily without the need for Z-plasties. This alternative method of treatment can be considered in such unusual locations of constriction band syndromes.- - - - - - - - - - ranking = 1keywords = spectrum (Clic here for more details about this article) |
3/39. Acardiac anomaly spectrum.BACKGROUND: Acardiac anomaly spectrum is a rare congenital malformation found in monozygotic twin pregnancy. Besides the absence of heart, the condition is associated with variable grades of developmental disruption. Thus, no two cases are similar. methods: This case report is based on physical examination and autopsy findings. RESULTS: The twin had acardia and partial development of head and face. There was complete absence of upper extremities. CONCLUSIONS: The twin reversed arterial perfusion (TRAP) theory is the most accepted etiology of the disorder. Normally, the cephalic pole is the most severely affected, being most distal to the retrograde perfusion. In acardia, partial development of head, face, and brain is usually associated with the development of the upper extremities. However, in the present case, there was extensive cephalic development in the absence of upper extremity development.- - - - - - - - - - ranking = 5keywords = spectrum (Clic here for more details about this article) |
4/39. Microdeletion 4p16.3 in three unrelated patients with wolf-hirschhorn syndrome.wolf-hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a distinct entity, is a similar condition associated with a microdeletion overlapping the WHS critical region. In this paper we evaluate three WHS patients showing a microdeletion of 4p and remarkable development with respect to the clinical spectrum of WHS.- - - - - - - - - - ranking = 1keywords = spectrum (Clic here for more details about this article) |
5/39. Volvulus of the stomach in childhood: the spectrum of the disease.INTRODUCTION: During a 5-year time frame, five cases of symptomatic gastric volvulus were diagnosed and treated in our department. Four presented with the acute form of gastric volvulus and underwent emergency surgery. The fifth suffered the chronic variant of the syndrome and was benefited by nonoperative management. The cases serve to remind emergency physicians of the spectrum of gastric volvulus. The report supplements the sparse clinical description in the emergency literature. RESULTS: In the operated patients, there were no postoperative complications. The outcome, to the time of publication, has been good in every instance. The history, etiology, presentation, and treatment of the disease are discussed in detail. CONCLUSIONS: Not infrequently, gastric volvulus in children fails to exhibit the full gamut of signs and symptoms such as abdominal distension, vomiting, pain, and retching. For this, as well as for other stated reasons, symptomatic gastric volvulus in infancy and childhood may not be as rare as is commonly assumed.- - - - - - - - - - ranking = 5keywords = spectrum (Clic here for more details about this article) |
6/39. prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.INTRODUCTION: Pyruvate dehydrogenase deficiency is an inherited inborn error of metabolism associated with early neonatal death and long-term neurologic sequelae in survivors. prenatal diagnosis currently relies on isolation of fetal cells for subsequent genetic and/or biochemical studies. magnetic resonance imaging and magnetic resonance spectroscopy have been used on occasion for both postnatal diagnosis and management of pyruvate dehydrogenase deficiency. We illustrate a case in which these non-invasive modalities also prove useful for prenatal diagnosis of this condition. CASE: A 31-year-old multipara with a history of two prior infants affected with pyruvate dehydrogenase deficiency presented with a spontaneous dichorionic, diamniotic twin pregnancy. magnetic resonance imaging and magnetic resonance spectroscopy were performed on both fetuses. magnetic resonance imaging of the presenting (male) fetus demonstrated mild ventriculomegaly, increased extracerebrospinal fluid, and decreased cortical sulcation and gyration. The non-presenting (female) fetus was structurally normal. magnetic resonance spectroscopy spectra were obtained for both fetuses, and were normal. The diagnosis of pyruvate dehydrogenase deficiency was made in the presenting fetus after delivery on the basis of subsequent mortality from severe lactic acidosis. CONCLUSION: Prenatal MR imaging of the fetal brain can be used for prenatal diagnosis in fetuses at risk for pyruvate dehydrogenase deficiency. Prenatal MR spectroscopy, although technically feasible, does not appear to have a role in the prenatal diagnosis of this condition.- - - - - - - - - - ranking = 36.071228342029keywords = spectroscopy (Clic here for more details about this article) |
7/39. Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p.We report a child with craniosynostosis, partial absence of the corpus callosum, developmental delay, precocious puberty, and deletion of chromosome 9(p12p13,3). A review of the literature did not reveal any previous combination of the same kind. Craniosynostosis and partial absence of the corpus callosum, separately or in conjunction, may be part of the spectrum of malformations in the chromosome 9p deletion syndrome, and its presence, in combination with other known features, should prompt a search for this particular deletion as part of the differential diagnosis.- - - - - - - - - - ranking = 1keywords = spectrum (Clic here for more details about this article) |
8/39. Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?BACKGROUND: In 1972, Fuhrmann et al. (Humangenetik 1972;14:196-203) described a novel syndrome consisting of cleft palate (CP) and lateral synechiae (LS) between the palate and the floor of the mouth. This constellation of malformations, since denoted as cleft-palate lateral synechiae syndrome (CPLS), is a rare syndrome; only five cases have been reported since the original description. Because of the paucity of recognized cases, little is known regarding the phenotypic spectrum of this presumably autosomal dominant condition. CASES: We report two unrelated patients who presented with remarkably similar phenotypic features, including multiple intraoral synechiae (filiforme intraalveolar bands), cleft palate, micrognathia, and redundant lower lip tissue. Their phenotypic findings indicate a diagnosis of CPLS; however, case 3 (the monozygotic twin of case 2) had classic phenotypic features of Fryns syndrome. CONCLUSIONS: This report presents two new cases of CPLS, and suggests that the CPLS phenotype may represent the mild end of the Fryns syndrome phenotypic spectrum. Supplementary material for this article can be found on the Birth Defects research (Part A) website (http://www.interscience.wiley.com/ jpages/1542-0752/suppmat/67/fig5.xls).- - - - - - - - - - ranking = 6keywords = spectrum (Clic here for more details about this article) |
9/39. goldenhar syndrome and autistic behaviour.Two girls with concomitant goldenhar syndrome (oculo-auriculovertebral spectrum disorder) and autistic disorder are described. One was diagnosed as having goldenhar syndrome in the first few weeks of life and as having autistic disorder in her fifth year; the other was diagnosed as having goldenhar syndrome when she was referred for evaluation of autistic symptoms at seven years of age. The type of physical abnormalities encountered in goldenhar syndrome suggests damage to neural structures in the second or late stages of the first trimester. The two cases described in this report suggest that autistic disorder sometimes can result from neural damage during the second trimester.- - - - - - - - - - ranking = 1keywords = spectrum (Clic here for more details about this article) |
10/39. Cognitive deficits and magnetic resonance spectroscopy in adult monozygotic twins with lead poisoning.Seventy-one-year-old identical twin brothers with chronic lead poisoning were identified from an occupational medicine clinic roster. Both were retired painters, but one brother (J.G.) primarily removed paint and had a history of higher chronic lead exposure. patella and tibia bone lead concentrations measured by K-X-ray fluorescence in each brother were 5-10 times those of the general population and about 2.5 times higher in J.G. than in his brother (E.G.). magnetic resonance spectroscopy (MRS) studies examined N-acetylaspartate:creatine ratios, a marker of neuronal density. Ratios were lower in J.G. than in his brother. Scores on neurocognitive tests that assess working memory/executive function were below expectation in both twins. Short-term memory function was dramatically worse in J.G. than in his brother. These results demonstrate some of the more subtle long-term neurologic effects of chronic lead poisoning in adults. In particular, they suggest the presence of frontal lobe dysfunction in both twins, but more dramatic hippocampal dysfunction in the brother with higher lead exposure. The MRS findings are consistent with the hypothesis that chronic lead exposure caused neuronal loss, which may contribute to the impairment in cognitive function. Although a causal relation cannot be inferred, the brothers were genetically identical, with similar life experiences. Although these results are promising, further study is necessary to determine whether MRS findings correlate both with markers of lead exposure and tests of cognitive function. Nevertheless, the results point to the potential utility of MRS in determining mechanisms of neurotoxicity not only for lead but also for other neurotoxicants as well.- - - - - - - - - - ranking = 45.089035427536keywords = spectroscopy (Clic here for more details about this article) |
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