1/408. prenatal diagnosis of smith-lemli-opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus.A cytogenetically normal male fetus was subsequently found to have female external genitalia, a cardiac malformation and mid-trimester intra-uterine growth retardation by ultrasound examination. The maternal serum oestriol level was low. The combination of low oestriol and sonographic findings suggested Smith Lemli Opitz syndrome (SLO), which was confirmed by a markedly increased amniotic fluid level of 7-dehydrocholesterol. We review the differential diagnosis of apparent sex reversal in a fetus and low maternal serum oestriol level. To further examine the specificity of low maternal oestriol level as a marker for SLO a follow-up study of 12141 pregnancies screened for down syndrome using three biochemical markers: alpha-fetoprotein, beta-human chorionic gonadotrophin and oestriol was performed. 26 pregnancies had an oestriol level that was 0.25 MoM or less. SLO was not diagnosed clinically in any of the liveborn children ascertained through a low maternal oestriol level. Nine of the pregnancies ended in spontaneous miscarriage. Although the frequency of SLO in pregnancies with low maternal oestriol levels or sex-reversed fetuses is unknown, the diagnosis of SLO should, nevertheless, be considered in both clinical settings.- - - - - - - - - - ranking = 1keywords = retardation, gene (Clic here for more details about this article) |
2/408. Antenatal diagnosis of Bart's hydrops fetalis [correction of homozygous alpha thalassemia]. A case report.OBJECTIVE: Diagnosis of the Bart's hydrops fetalis [corrected]. METHOD: Bart's hydrops fetalis [corrected] was discovered by chance in the fetus of a female Chinese patient. Major intrauterine growth retardation, oligohydramnios, an immobile fetus, and cardiomegaly were the principal echographic signs. cordocentesis showed fetal anemia, and electrophoresis of fetal hemoglobin revealed the presence of Bart's hemoglobin. RESULT: As there is no known effective treatment, termination of pregnancy was proposed to the patient. CONCLUSIONS: Bart's hydrops fetallis [corrected] is a lethal condition. Early echographic signs (cardiothoracic index >0.50, placental thickening) can be screened during weeks 17-18 or even during weeks 13-14 of gestation. These signs would permit a reduction of invasive examinations in couples at risk.- - - - - - - - - - ranking = 0.99993978514983keywords = retardation (Clic here for more details about this article) |
3/408. Extensive brain calcification in two children with bilateral Coats' disease.We report two children with bilateral Coats' disease associated with cerebral calcifications in the basal ganglia and deep white matter, asymptomatic at the time of their discovery. cerebellar ataxia developed secondarily in one of them. Both children were born small for date and had febrile convulsive seizures. Three similar patients have been previously reported, two of them in the same sibship; the third reported patient died of aplastic anemia. Bilateral Coats' disease in children should prompt systematic CT scan in search of cerebral calcifications. If present, neurological and genetic prognosis should be cautious.- - - - - - - - - - ranking = 6.0214850174025E-5keywords = gene (Clic here for more details about this article) |
4/408. Hypocalvaria associated with intrauterine growth retardation, facial dysmorphism, congenital heart disease and camptomelia.We report an Omani child from an inbred family with a combination of hypocalvaria, intrauterine growth retardation, craniofacial disproportion, partial synostosis of the right coronal suture and a small mandible associated with congenital heart defect and bowing of the limbs. A literature search failed to reveal a similar case.- - - - - - - - - - ranking = 4.9996989257491keywords = retardation (Clic here for more details about this article) |
5/408. siblings with a syndrome of hydrocephalus with patent aqueduct, growth retardation and associated anomalies.We report on male siblings with hydrocephalus with associated abnormalities including growth retardation, midline cleft palate and bilateral 'fisting' of the hands, providing evidence for a familial syndrome of hydrocephalus and associated anomalies.- - - - - - - - - - ranking = 4.9996989257491keywords = retardation (Clic here for more details about this article) |
6/408. Three cases of congenital growth hormone deficiency with micropenis and hypospadias: what does growth hormone have to do with it?This paper reports 3 cases of congenital GH deficiency with male pseudohermaphroditism. All 3 showed a normal male karyotype, hypospadias of different degrees, and, for 2 of them, micropenis. No mullerian structure was individualized since pelvic ultrasound and genitography were normal. Patient 1 was born with multiple anomalies and patient 3 showed partial agenesia of the corpus callosum. Only 1 patient showed complete anterior pituitary deficiency. Gonadotropin defects were not investigated. We postulate that GH might play a role in early testosterone stimulation, and thus in male sexual differentiation.- - - - - - - - - - ranking = 6.0214850174025E-5keywords = gene (Clic here for more details about this article) |
7/408. Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism.Leukocyte adhesion deficiency II has been described in only 2 patients; herein we report extensive investigation of another patient. The physical stigmata were detected during prenatal ultrasonographic investigation. Sialyl-Lewis X (sLex) was absent from the surface of polymorphonuclear neutrophils, and cell binding to E- and p-selectin was severely impaired, causing an immunodeficiency. The elevation of peripheral neutrophil counts occurred within several days after birth. A severe hypofucosylation of glycoconjugates bearing fucose in different glycosidic links was present in all cell types investigated, demonstrating that leukocyte adhesion deficiency II is not only a disorder of leukocytes but a generalized inherited metabolic disease affecting the metabolism of fucose.- - - - - - - - - - ranking = 0.00030107425087012keywords = gene (Clic here for more details about this article) |
8/408. Small for gestational age infant in association with maternal prothrombin gene variant (nt 20210A).Most of disproportionate infants born small for gestational age (SGA) have an history of placental dysfunction with no explained cause. We report a case of an unexplained SGA infant with placental infarctions and thrombosis. Maternal thrombophilic disorder tests revealed that the patient was heterozygous for the A20210 prothrombin gene variant a newly identified thrombotic risk factor. It may be suggest that prothrombin gene variant, as factor v Leiden, could be a genetic risk factor for placental insufficiency.- - - - - - - - - - ranking = 0.00042150395121817keywords = gene (Clic here for more details about this article) |
9/408. May-Hegglin anomaly in a pregnancy complicated by intrauterine growth restriction and ambiguous genitalia.OBJECTIVE: thrombocytopenia as a hematologic disorder complicates up to 4% of all pregnancies. May-Hegglin anomaly is a rare cause of low platelets in pregnancy. methods: A case of May-Hegglin anomaly complicating pregnancy and intrauterine growth restriction in a fetus with ambiguous genitalia is described. RESULTS: The antepartum and intrapartum diagnosis and management of a patient diagnosed with May-Hegglin anomaly is discussed. The involvement and consultation of a perinatologist, neonatologist, internist, and anesthesiologist is reviewed, with emphasis on the mode of delivery. CONCLUSION: The potential maternal and fetal complications associated with May-Hegglin anomaly warrant early pregnancy diagnosis and access to a tertiary care facility.- - - - - - - - - - ranking = 0.0063885020742357keywords = anomaly (Clic here for more details about this article) |
10/408. A novel deficiency of mitochondrial ATPase of nuclear origin.We report a new type of fatal mitochondrial disorder caused by selective deficiency of mitochondrial ATP synthase (ATPase). A hypotrophic newborn from a consanguineous marriage presented severe lactic acidosis, cardiomegaly and hepatomegaly and died from heart failure after 2 days. The activity of oligomycin-sensitive ATPase was only 31-34% of the control, both in muscle and heart, but the activities of cytochrome c oxidase, citrate synthase and pyruvate dehydrogenase were normal. Electrophoretic and western blot analysis revealed selective reduction of ATPase complex but normal levels of the respiratory chain complexes I, III and IV. The same selective deficiency of ATPase was found in cultured skin fibroblasts which showed similar decreases in ATPase content, ATPase hydrolytic activity and level of substrate-dependent ATP synthesis (20-25, 18 and 29-33% of the control, respectively). pulse-chase labelling of patient fibroblasts revealed low incorporation of [(35)S]methionine into assembled ATPase complexes, but increased incorporation into immunoprecipitated ATPase subunit beta, which had a very short half-life. In contrast, no difference was found in the size and subunit composition of the assembled and newly produced ATPase complex. Transmitochondrial cybrids prepared from enucleated fibroblasts of the patient and rho degrees cells derived from 143B. TK(-)human osteosarcoma cells fully restored the ATPase activity, ATP synthesis and ATPase content, when compared with control cybrids. Likewise, the pattern of [(35)S]methionine labelling of ATPase was found to be normal in patient cybrids. We conclude that the generalized deficiency of mitochondrial ATPase described is of nuclear origin and is caused by altered biosynthesis of the enzyme.- - - - - - - - - - ranking = 6.0214850174025E-5keywords = gene (Clic here for more details about this article) |
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