Results 51 to 60 of about 750 (161)
Retrospective Analysis of the Congenital Malformations in the Tertiary Center in Şanlıurfa
Van Tıp Dergisi, 2019 INTRODUCTION: The aim of this study is to determine the incidence, type and distribution of congenital anomalies that were diagnosed prenatally in a tertiary center of Sanliurfa which is the city that has the highest birth rate of Turkey.
Sibel Sak +4 more
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Fetal Echocardiography Characteristics in a Tertiary Center
Erciyes Medical Journal, 2020 Objective: Fetal echocardiography is an important and growing diagnostic tool for early detection of congenital heart diseases and rhythm problems. In this study, we evaluated retrospectively indications and prenatal and postnatal diagnoses for fetal ...
Elif Erolu, Özlem Sarısoy
doaj +1 more source
Case Reports in Genetics, Volume 2025, Issue 1, 2025.Biallelic pathogenic variants in RAPSN cause a form of congenital myasthenic syndrome (CMS), which is typically characterized by fatiguable muscle weakness, hypotonia, and feeding difficulties that present in the neonatal period or early childhood. RAPSN‐associated CMS can be treated with acetylcholinesterase inhibitors.
Laura Keehan +8 more
wiley +1 more source
Journal of Pediatric Surgery Case Reports, 2018 Congenital chylothorax is a rare presentation of nonimmune hydrops fetalis (NIHF). We report a case of congenital chylothorax presenting as NIHF managed successfully with chemical pleurodesis.
Vilmaris Quinones Cardona, MD +3 more
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Journal of Medical Virology, Volume 96, Issue 11, November 2024.ABSTRACT A significant increase in Parvovirus B 19 (B19V) infections has been reported in the last months in some European countries. This outbreak could be highly detrimental for pregnant women, considering the capacity of the virus to harm the fetus. However, the magnitude and spread of this outbreak is yet unclear.
Beatrice Tassis +7 more
wiley +1 more source
Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis
Pediatrics and Neonatology, 2013 Niemann–Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/
Ozge Surmeli-Onay +7 more
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Prenatal Phenotype of Alkuraya‐Kučinskas Syndrome: A Novel Case and Systematic Literature Review
Prenatal Diagnosis, Volume 44, Issue 11, Page 1381-1397, October 2024.ABSTRACT Alkuraya‐Kučinskas syndrome (AKS) is an autosomal recessive multisystem disorder resulting from mutations in the BLTP1 gene, formerly known as KIAA1109. Primary manifestations include brain malformations, arthrogryposis, and clubfeet. Cardiac, renal, and ophthalmologic abnormalities may also be observed, while nonimmune hydrops is rare.
Stephanie M. Rice +9 more
wiley +1 more source
Antenatal Imaging of Ebstein’s Anomaly with Hydrops Fetalis
Medical Journal of Dr. D.Y. Patil VidyapeethEbstein’s anomaly is a rare congenital cardiac anomaly characterized by tricuspid valve (TV) malformation, including the low insertion of the septal and posterior leaflets of the TV into the tricuspid annulus. It is one of the common malformations of the
Shrishail Adke +2 more
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Etiology and Outcome of Hydrops Fetalis: Report of 62 Cases
Pediatrics and Neonatology, 2014 We aimed to define the etiologic and prognostic factors in live-born infants with hydrops fetalis (HF) in our tertiary neonatal intensive care unit over a 10-year period.
Sahin Takci +6 more
doaj +1 more source
The Turkish Journal of Pediatrics, 1997 Nuchal vascular hamartoma was found in a newborn premature infant who presented with nonimmune hydrops fetalis, pulmonary hypoplasia due to bilateral pleural effusion and polyhydramnios in utero.
H Ozkan +6 more
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