Results 41 to 50 of about 4,673 (178)
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Rachipagus parasitic twinning is an exceptionally rare clinical entity resulting from an asymmetric monozygotic twinning process, characterized by a dorsally co‐joined partially formed twin. Co‐ existence of this condition with neural tube defect is uncommon, yet clinically significant.
Biruk Lealem +2 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 +43 more
wiley +1 more source
Intralesional bleomycin sclerotherapy for cystic hygroma in children - as alternative treatment [PDF]
Al Ameen Journal of Medical Sciences, 2023 Introduction: Although cystic hygromas can appear in any part of the body they are commonly found in the cervicofacial regions particularly in the posterior cervical triangle, axilla, mediastinum, groyne and below the tongue.
Sharanbasappa Gubbi +3 more
doaj
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 +4 more
wiley +1 more source
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 669-686, May 2026.ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel +17 more
wiley +1 more source
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 892-903, May 2026.ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani +17 more
wiley +1 more source
European Journal of Pediatric Dermatology, 2017 Cystic hygroma is a cavernous deep lymphangioma characterized by the presence of few large cystic cavities often separated by a dense fibrous septum. The most characteristic localization of the neck seems to be related to the presence of a large lymph sac in the neck at the side of the jugular veins in which the main lymphatic ducts – the right and the
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Cystic hygroma of unusual sites: Report of two cases
African Journal of Paediatric Surgery, 2011 Cystic hygroma is the cystic variety of lymphangiomas. Its common site is cervico-facial region, followed by axilla, superior mediastinum, mesentery and retroperitoneal region. Its occurrence in upper extremity is rarely reported, whereas its location at
Mirza Bilal +5 more
doaj
Intra parotid cystic lymphangioma masquerading as a neoplasm, a rare entity at unusual site
Muller Journal of Medical Sciences and Research, 2019 Cystic hygroma is an uncommon congenital malformation and usually present as an asymptomatic, painless, soft, fluctuant mass in infancy, and early childhood. The neck is the most common site followed by the face, tongue, and floor of the mouth.
Nibedita Sahoo +4 more
doaj +1 more source