Results 51 to 60 of about 10,139 (212)

Mediastinal teratoma with hydrops fetalis in a newborn and development of chronic respiratory insufficiency

Radiology and Oncology, 2014
Background. Mediastinal fetal teratoma can be detected as a mass in the chest during a routine prenatal ultrasound screening. Because of the pressure on mediastinal structures it can be the cause of non-immune hydrops fetalis and polyhydramnion.
Simoncic Milanka, Kopriva Silvo, Zupancic Ziva, Jerse Maja, Babnik Janez, Srpcic Matevz, Grosek Stefan   +6 more
doaj   +1 more source

Idiopathic Infantile arterial calcification –A Very rare case [PDF]

, 2010
A rare case of Idiopathic Arterial Calcification of Infancy (IACI), inherited as an autosomal recessive disease, is ...
Joshi, PS, Sarmila, N, Vani, R
core  

Perinatal-lethal Gaucher disease presenting as hydrops fetalis

The Pan African Medical Journal, 2015
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis.
Emira Ben Hamida, Imene Ayadi, Ines Ouertani, Maroua Chammem, Ahlem Bezzine, Riadh Ben Tmime, Leila Attia, Ridha Mrad, Zahra Marrakchi   +8 more
doaj   +1 more source

Nonimmune Hydrops Fetalis and Early Skeletal Changes in Congenital Syphilis: Case Series and Review of Literature [PDF]

Pediatric Infectious Disease
Aim and background: Syphilis remains the most common congenital infection in the world. During pregnancy, syphilis is associated with numerous findings, including placentomegaly, hepatomegaly, polyhydramnios, fetal nonimmune hemolytic anemia, and hydrops
Kruti N Shah, Shwetal Bhatt, Vaishali Chanpura   +2 more
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Hydrops fetalis associated with chorioangioma and thrombosis of umbilical vein

The Turkish Journal of Pediatrics, 2009
Placental chorioangioma and thrombosis of an umbilical vein varix are rare etiologic factors of non-immune hydrops fetalis. Herein, we report a patient who had hydrops fetalis associated with placental chorioangioma and thrombosis of an umbilical ...
Ercan Sivasli, Ozlem Tekşam, Mithat Haliloğlu, Safak Güçer, Diclehan Orhan, Aytemiz Gürgey, Gülsevin Tekinalp   +6 more
doaj  

Multi‐Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Integrated phenotypic, genomic and computational analyses identified a novel homozygous IFT122 variant causing cranioectodermal dysplasia 1. Structural modeling predicts destabilization of IFT122 protein and altered interactions within the IFT‐A complex, supporting its pathogenicity.
Deema Aljeaid, Abdulrahman Almadiny, Khalidah K. Nasser, Mahmoud Almutadares, Noha M. Issa   +4 more
wiley   +1 more source

Non-immune hydrops fetalis

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Non-immune hydrops fetalis (NIHF) refers to hydrops in the absence of maternal circulating red-cell antibodies, and constitutes up to 90% of all described hydrops fetalis cases.
Murat Yurdakök
doaj   +1 more source

The Systematic Work Up to Identify Etiology of Non-immune Hydrops Fetalis: A perspective view of pathologist

Thai Journal of Obstetrics and Gynaecology, 2020
Non-immune hydrops (NIH) is an important condition in health service. Many etiologies of NIH have been described, but the definite cause of NIH in many cases is still reported as “unknown”. This finding may be partly explained by the inadequate
Patou Tantbirojn
doaj   +1 more source