Results 11 to 20 of about 5,737 (180)

The Clinical Utility of Sequence-Based Genetic Testing for Fetal Edema Following Non-Diagnostic Microarray Results: A Population-Based Cohort Study. [PDF]

Prenat Diagn
ABSTRACT Objective Ultrasound findings of fetal edema may provide early evidence of a genetic disorder. Our objective was to evaluate the frequency and diagnostic yield of sequencing in a selected population after a non‐diagnostic microarray result for fetal edema.
Allen VM, Arts HH, Schollenberg E, Kinley S, Aberg E, Brock JK.   +5 more
europepmc   +2 more sources

Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family. [PDF]

Mol Genet Genomic Med
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.
Aljeaid D, Almadiny A, Nasser KK, Almutadares M, Issa NM.   +4 more
europepmc   +2 more sources

CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype. [PDF]

Prenat Diagn
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Gofin Y, Dery T, Tenne T, Yaacobi RG, Block E, Kalis ML, Mor-Shaked H, Douiev-Charpak L, Birnbaum R, Shohat M, Markovich O, Kidron D, Sukenik-Halevy R.   +12 more
europepmc   +2 more sources

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections. [PDF]

Prenat Diagn
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.
Gulrajani NB, Boscardin J, Lianoglou BR, Tick K, Santoli CMA, Miller KA, Jelin AC, Dugoff L, Giardine R, Feist C, Pilliod R, Dukhovny S, Gilmore K, Vora NL, Murphy A, Robinson PN, Norton ME, Sparks TN.   +17 more
europepmc   +2 more sources

Campylobacter jejuni subdural hygroma infection in a 2-year old boy: case report and a brief literature review

BMC Infectious Diseases, 2022
Background Campylobacter jejuni is a common cause of acute gastroenteritis, but central nervous system infections are rare manifestations of Campylobacter infection. Therefore, C.
Ivana Valenčak-Ignjatić, Nina Krajcar, Diana Didović, Srđan Roglić, Iva Butić, Marko Jelić, Hrvoje Jednačak, Goran Tešović   +7 more
doaj   +1 more source

Massive cystic hygroma of the neck with respiratory distress in newborn

Journal of Pediatric Surgery Case Reports, 2021
Cystic hygroma is one of the congenital benign tumors of the lymphatic system, which commonly occurs on the neck and axial area. Despite its benign nature, cystic hygroma of the neck is potentially a life-threatening condition.
Martono Tri Utomo, Aminuddin Harahap, Risa Etika   +2 more
doaj   +1 more source

Polycystic subdural hygroma associated with immunoglobulin G4-related intracranial hypertrophic pachymeningitis: a case report

BMC Neurology, 2020
Background Recent studies have examined hypertrophic pachymeningitis as an IgG4-RD. However, there are no reports of immunoglobulin G4 (IgG4)-related hypertrophic pachymeningitis with polycystic subdural hygroma.
Kazumichi Ota, Yoshihiko Nakazato, Risa Okuda, Ryu Yokoyama, Hitoshi Kawasaki, Naotoshi Tamura, Toshimasa Yamamoto   +6 more
doaj   +1 more source

HYGROMA COLLI

Annals of Surgery, 1918
n ...
Kahn, Lee, Graves, Stuart
openaire   +4 more sources

Cystic hygroma

National Journal of Maxillofacial Surgery, 2010
Surgical management of cystic hygroma is very challenging since it has a thin wall consisting of endothelium which can easily be torn during its enucleation leading to recurrence. The other treatment options are intralesional injection of OK-432, triamcinolone followed by surgical excision, if necessary, injection of sclerosing agents, repeated ...
Kumar, Naresh, Kohli, Munish, Pandey, Saumya, Tulsi, S.P.S.   +3 more
openaire   +3 more sources

HYGROMA OF THE GROIN [PDF]

Journal of the American Medical Association, 1914
ABSTRACT The following case of hygroma in the groin is of interest on account of its apparent rarity and also because the method by which healing was finally induced is not commonly in vogue.Surgical literature contains very little concerning hygroma in the groin.
openaire   +1 more source