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Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature.

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Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly under diagnosed. We could find less than 25 cases reported in the literature. Patients were initially categorized as having either microcephaly and lymphedema or microcephaly and chorioretinal dysplasia. The

Nonimmune hydrops fetalis, hydramnios, microcephaly, and intracranial meningeal hemangioendothelioma.

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Necropsy findings in a male stillborn at 31 weeks gestational age included nonimmune hydrops, hydramnios, and microcephaly secondary to a hemangioendotheliomatous malformation at the tentorium. The vascular lesion was composed by large and small tortuous endothelium-lined vessels and leiomuscular

De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and molecular cytogenetic characterization.

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OBJECTIVE To present prenatal diagnosis of partial monosomy 5p (5p14.1 → pter) and partial monosomy 14q (14q32.31 → qter). METHODS A 33-year-old woman underwent amniocentesis at 20 weeks of gestation because of abnormal fetal ultrasound. Amniocentesis revealed a dicentric chromosome of dic(5;14).

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

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The Na⁺/K⁺- ATPase acts as an ion pump maintaining the essential plasma membrane potential in all mammalian cell types, and is essential for many cellular functions. There are four α isoforms (α1, α2, α3 and α4) with distinct expression patterns, kinetic properties and

Male siblings with dyserythropoiesis, microcephaly and intrauterine growth retardation.

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Male siblings with intrauterine growth retardation, hydrops, mild liver dysfunction, chronic diarrhoea, failure to thrive and microcephaly are reported. In both patients, the intrauterine growth retardation was detected in the second trimester of pregnancy. Relatively severe early onset neonatal

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly.

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OBJECTIVE To present the prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation (DWM), abnormal skull development, microcephaly and multiple congenital

Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?

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Two brothers with congenital microcephaly, growth and mental retardation, flexion contractures, dorsal edema of hands and feet, and ichthyotic skin changes are described. Mild manifestations of Neu-Laxova syndrome have to be considered but long survival and only mild intrauterine growth retardation

Pathological study of lesion caused by Serpinema microcephalus (Nematoda: Camallanidae) in Mauremys caspica caspica from north of Iran.

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Serpinema microcephalus is nematoda from family Camallanidae, which have a lot of pathogenesis species that harbored via many animals like fishes, reptiles and amphibians. Epidemiological study in different regions and histopathological examination of intestinal parasitic infections caused by S.

Correlation between Apoptosis and in Situ Immune Response in Fatal Cases of Microcephaly Caused by Zika Virus.

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Zika virus (ZIKV) is a single-stranded positive-sense RNA flavivirus that possesses a genome approximately 10.7 Kb in length. Although pro-inflammatory and anti-inflammatory cytokines and apoptotic markers belonging to the extrinsic and intrinsic pathways are suggested to be involved in fatal cases

Syphilis Infection: An Uncommon Etiology of Infectious Nonimmune Fetal Hydrops with Anemia.

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An increased prevalence of syphilis has been observed in many developed countries over the last decade. During pregnancy, syphilis can affect the fetus through development of nonspecific symptoms such as microcephaly, ascites, hepatosplenomegaly, dilated and echogenic bowel, placentomegaly, and,

[Abnormal fetal ultrasound findings after maternal chickenpox infection].

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Chicken pox infection in the first and early in the second trimester can lead to intrauterine infection and a 2% risk of developing congenital varicella syndrome (CVS). CVS is characterized by one or more of the following malformations: hypoplasia of a limb, scarring of the skin, microcephaly,

Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.

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Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with many features resulting from severe skin restriction and decreased fetal movement. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central

Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker malformation.

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BACKGROUND Partial deletion of the long arm of the chromosome 13 is a rare chromosomal aberration and may present with microcephaly, colobomata, microphthalmia, distal limb and digital anomalies, cardiac defects, brain and urogenital malformations, anal atresia and growth restriction. METHODS We

Effects of fenitrothion and carbaryl on Xenopus laevis development.

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When Xenopus laevis embryos were treated with fenitrothion, a substantial proportion failed to survive to hatching only when the concentration approached saturation. However, after exposure to 10 ppm of fenitrothion, most were abnormal and did not survive past feeding stage. Different embryonic

A rare cause of polyhydramnios: Neu-Laxova syndrome.

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Neu-Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, facial abnormalities, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death. Thirty cases have been

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