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Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome.

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We describe a small, term, male infant with corticospinal tract aplasia secondary to motor cortex dysplasia from a neuronal proliferation and/or migrational defect. The infant also had microdolichocephaly, sloping forehead, hypertelorism, flat nose, apparently low-set ears, micrognathia,

Neuropathologic documentation of prenatal brain damage.

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Neuropathologic evidence of prenatal brain damage, chiefly in cerebral white matter, was found in 25% of infants who died at 7 days of age or less, with a total of ten preterm (16%) and 12 term (48%) infants among the 89 subjects studied. Few clinical features distinguished infants with prenatal

Prolongation of premature gestation in women with hemolysis, elevated liver enzymes and low platelets. A report of five cases.

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Severe pregnancy-induced hypertension complicated by hemolysis, elevated liver enzymes and low platelets (HELLP) is considered an indication for immediate delivery, often resulting in premature or even previable infants. In five cases, temporary reversal of the HELLP syndrome was achieved using

Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy.

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BACKGROUND Epilepsy still remains a serious challenge for any obstetrician due to the potential teratogenicity of all antiepileptics. However, without appropriate maternal therapy the seizures can reappear, with direct negative impact on fetus. Currently, sirenomelia is the most severe caudal pole

Combined sonographic testing index and prediction of adverse outcome in preterm fetal growth restriction.

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OBJECTIVE We sought to test the hypothesis that a combined sonographic scoring system (CSTI) that incorporates features of the biophysical profile (BPP) and multivessel Doppler evaluation improves prediction of adverse outcomes in preterm intrauterine growth restriction. METHODS This was a

Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome: A case report.

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Wolf-Hirschhorn Syndrome (WHS) is a rare disorder caused by the loss of the distal part of the short arm of chromosome 4, and has various phenotypes depending on the deletion size. Although many articles report on urinary tract malformations or ophthalmologic abnormalities, there are

Electroconvulsive Therapy in Women: A Retrospective Study from a Mental Health Hospital in Turkey.

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The aim was to evaluate the clinical profile and effectiveness of ECT in women. A retrospective chart review was carried out to identify female patients who had received ECT during the period September 2013-February 2015. Details regarding their sociodemographic, clinical, and treatment data were

New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3.

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X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and

Association between perinatal hypoxic-ischemia and periventricular leukomalacia in preterm infants: A systematic review and meta-analysis.

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BACKGROUND Although investigators have implicated hypoxic-ischemia (HI) as a potential cause of periventricular leukomalacia (PVL), the role of clinical risk factors or markers for HI in the development of PVL remains controversial. The aim of this study was to identify perinatal HI-related factors

Clinical results of fetal obstructive uropathy treated by vesicoamniotic shunting.

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OBJECTIVE To report the clinical results of 5 fetuses after a vesicoamniotic shunting procedure (VASP). METHODS Between 1995 and 1998, 5 patients (two with prune belly syndrome, one with a cloacal anomaly, one with urethral stenosis, and one with a sacrococcygeal teratoma) underwent VASP using a

Neonatal outcomes after demonstrated fetal lung maturity before 39 weeks of gestation.

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OBJECTIVE To compare outcomes among neonates delivered after documentation of fetal lung maturity before 39 weeks and those delivered at 39 or 40 weeks. METHODS This was a retrospective cohort study of women with singleton pregnancy delivered at 36 0/7 to 38 6/7 weeks after positive fetal lung

Perinatal antecedents of cerebral palsy.

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The dramatic reduction in perinatal morbidity and mortality over the last decade has not been accompanied by any diminution in the incidence of cerebral palsy. We investigated retrospectively the relationship of certain perinatal events to the subsequent development of cerebral palsy in 75 infants.

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

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Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies. Given its clinical heterogeneity, GAMOS is believed to be a genetically

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

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Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster

A new case of ALG8 deficiency (CDG Ih).

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Congenital disorders of glycosylation (CDG) represent an expanding group of inherited diseases. One of them, ALG8 deficiency (CDG Ih), leads to protein N-glycosylation defects caused by malfunction of glucosyltransferase 2 (Dol-P-Glc:Glc1-Man(9)-GlcNAc(2)-P-P-Dol glucosyltransferase) resulting in

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