hydrops fetalis/atrofia

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Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.

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We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation, respectively, with fetal hydrops, limb contractures, and akinesia. Autopsy of the first fetus showed subcutaneous fluid collections and severe degeneration of skeletal muscle. Histologic studies demonstrated

[Unusual complications at birth in a stillborn with spinal muscular atrophy].

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A report is given on a premature stillborn with severe congenital spinal muscular atrophy, arthrogryposis multiplex congenita and hydrops fetalis. During delivery the head was spontaneously pulled off. The neuromuscular disease was the cause of this unusual complication. No alterations of

Histologic changes in the adrenal gland reflect fetal distress in hydrops fetalis.

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The distribution of lipid in the fetal adrenal cortex is reported to correlate with the duration of hypoxia and degree of fetal stress. The original studies were based on Oil Red O staining, requiring frozen tissue that is often not available. To investigate the reliability of these observations,

Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome.

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BACKGROUND Giant placental chorioangiomas have been associated with a number of severe fetal complications and high perinatal mortality. METHODS We report a case of giant chorioangioma with fetal hydrops, additionally complicated by severe anemia, mild cardiomegaly with hyperdinamic heart

Lysosomal storage diseases presenting as transient or persistent hydrops fetalis.

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Two cases of beta-glucuronidase deficiency (mucopolysaccharidosis VII), presented with fetal hydrops at 20 and 26 weeks of gestation. The enzyme deficiency was observed in cultured amniotic fluid cells and in fetal plasma from cord-blood and was confirmed after termination of pregnancy. A third case

Ultrasound diagnosis, management and prognosis in a consecutive series of 27 cases of fetal hydrops following maternal parvovirus B19 infection.

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BACKGROUND Fetal hydrops caused by anemia from parvovirus B19 infection (FH-B19) is rare. Doppler measurement of the middle cerebral artery peak systolic velocity (PSV-MCA) improves its prenatal diagnosis, but its frequency and prognosis are still poorly known. Despite improved survival due to in

[Disseminated lipogranulomatosis (Farber disease) with hydrops fetalis].

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We report on a female preterm infant of 29 weeks' gestation with severe hydrops fetalis who died 3 days post natum as a result of disseminated intravascular coagulation. Autopsy findings included anasarca, bilateral pleural effusions, ascites and hepatosplenomegaly as well as multiple, up to pinhead

[Fetal hydrops (review of 30 cases)].

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Thirty cases of hydrops fetalis were reviewed in the obstetrics hospital No. 2 of the Social Security, and were treated in the isoimmunization clinic. Important data were obtained from the analysis, the most outstanding was the fact that both the mother with previous pregnancies and incompatible Rh

Hydrops fetalis caused by intrauterine human parvovirus infection.

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During a large outbreak of erythema infectiosum in 1987 in Toyama prefecture, Japan, a 32-year-old woman acquired a mild rash on her arms and legs at 18 weeks of gestation. At 26 weeks and 4 days of gestation, the fetus died by hydrops fetalis and pregnancy was terminated. Histological studies of

Fetal hydrops, hyperechogenic arteries and pathological doppler findings at 29 weeks: prenatal presentation of generalized arterial calcification of infancy - a novel mutation in ENPP1.

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Prenatal diagnosis of generalized arterial calcification of infancy (GACI) (OMIM #208000) is difficult and rare. There are various known gene mutations in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) locus 6q22-q23. We present a case of suspected intrauterine diagnosis at 29 weeks of

Hydrops fetalis and fibrosarcoma: case report of an uncommon association.

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Fetal hydrops associated with neonatal tumours is an uncommon occurrence. The diagnosis can be established prenatally by ultrasound examination. The treatment of choice is surgery which may be curative. We report the case of a male born at 32 weeks gestation who presented with severe hydrops fetalis

Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis.

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The authors report a case of unsuspected fetal storage disorder initially diagnosed by placental examination performed because of a transient ascites at 28 weeks of gestation. At birth mild dysmorphic features and gradual neurological deterioration were observed. Highly elevated alkaline phosphatase

GM1-gangliosidosis presenting as nonimmune hydrops fetalis: a case report.

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We report a new case of GM1-gangliosidosis diagnosed in a 5 months old baby who was admitted at birth to our Neonatology Unit because of congenital ascites. The antenatal diagnostic techniques, including ultrasound, maternal antibody screen and fetoscopy with fetal karyotyping, as well as postnatal

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.

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Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal storage disorder (LSD). Mutations in the SUMF1 gene encoding the formylglycine generating enzyme (FGE) result in an unstable FGE protein with reduced enzymatic activity, thereby affecting the posttranslational activation of newly

Non-immune Hydrops Fetalis and Hepatic Dysfunction in a Preterm Infant With Congenital Syphilis.

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We report a case of a preterm infant with congenital syphilis who presented with non-immune hydrops fetalis. Hepatic dysfunction was present at birth and acutely worsened following antibiotic administration. Placental pathology demonstrated infiltration with numerous spirochetes. Although critically

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