micrognathism/edema

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Recurrent non-immune hydrops fetalis with gracile bones and dysmorphic features in siblings.

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We report on two siblings with recurrent non-immune hydrops fetalis of unknown etiology. The proposita was born at 32-week gestation with hydrops fetalis. She died at less than 1 hr of age despite resuscitative efforts. Her brother was born 1 1/2 years later to the same parents. He was also born at

Evidence in a human fetus of micrognathia and cleft lip as potential effects of early cytomegalovirus infection.

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Human cytomegalovirus (CMV) infection is one of the most frequent congenital infections, affecting 0.2-2% of all live births. Approximately 30-50% of pregnant women are seronegative at the beginning of pregnancy, and 1% will develop primary infection during pregnancy. Fetal CMV infection is

Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome?

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We report on a family in which two sibs had apparently absent ribs and severe micrognathia on prenatal ultrasonography. The pregnancies were terminated at 19 and 12 weeks of gestation, respectively. Autopsy findings in the first fetus (19 weeks of gestation) included severe micrognathia, a U-shaped

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.

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Three unrelated stillborn infants (cases 1-3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin-to-sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops,

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

Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.

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We describe initial observations of an infant with dermatosparaxis (another form of Ehlers-Danlos syndrome, designated as type VIIC), an autosomal recessive disorder characterized by skin fragility and described in several species of domesticated animals. Electron microscopic examination of the skin

Autologous immune complex glomerulonephritis induces abnormal embryonic development.

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Young female random-bred Wistar rats were immunized with homologous renal brush border membranes. The immunized animals exhibited all the clinical and immunopathological characteristics of chronic autologous immune complex glomerulonephritis (Heymann nephritis) closely resembling the idiopathic

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

Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.

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Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male

[Aminoacetonitrile and fetogenesis of the rat. I. Fetal toxicity and gross malformations (author's transl)].

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We investigated the influence of the lathyrogenic compound aminoacetonitrile (AAN) on fetogenesis of the rat. In late pregnancy AAN induces nonspecific toxic effects resulting in hemorrhages, edema, disturbance of weight development, and severe interaction with viability. In fetogenesis AAN induces

Three-dimensional sonographic features of a fetus with Wolf-Hirschhorn syndrome.

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We present a case of fetal Wolf-Hirschhorn syndrome diagnosed by conventional two-dimensional and three-dimensional ultrasonography. Conventional two-dimensional ultrasonography revealed a diaphragmatic hernia, nuchal edema, and suspected hypospadias. Three-dimensional ultrasonography clearly showed

Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.

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Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported. A lethal form of Larsen syndrome (Larsen-like syndrome) has been described as a

Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.

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Neu-Laxova syndrome (NLS) is a lethal autosomal recessive microcephaly syndrome associated with intrauterine growth restriction (IUGR) and multiple congenital anomalies. Clinical features include central nervous system malformations, joint contractures, ichthyosis, edema, and dysmorphic facial

Ocular Features of Cerebro-costo-mandibular Syndrome.

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Cerebro-costo-mandibular syndrome (CCMS) is a rare hereditary disorder characterized by micrognathia, posterior rib gaps, and secondary developmental delay. Patients often require ventilation and feeding support throughout life. We describe the first reported ophthalmic findings of CCMS and propose

Prenatal diagnosis of thoracopelvic dysplasia. A case report.

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BACKGROUND Thoracopelvic dysplasia, a variant of asphyxiating thoracic dysplasia (Jeune syndrome), is an uncommon skeletal disorder characterized by a small thorax, pelvic abnormalities and other complex, combined anomalies, including hypomelia, polydactyly and renal anomalies. METHODS A 32-year-old

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