Results 61 to 70 of about 8,039 (258)

گزارش يک مورد لنفانژيوم مدياستن [PDF]

open access: yes, 2010
زمينه و هدف: هيگروم‌های سيستيک (لنفانژيوم) خوش خيم بوده و آنوماليهای شايع رشد و تکاملی با منشأ عروقی-لنفی هستند. آنها می‌توانند از هر قسمتی از سيستم لنفی منشأ بگيرند.
جواهرزاده, مجتبی   +5 more
core  

The Clinical Utility of Sequence‐Based Genetic Testing for Fetal Edema Following Non‐Diagnostic Microarray Results: A Population‐Based Cohort Study

open access: yesPrenatal Diagnosis, EarlyView.
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.
Victoria M. Allen   +5 more
wiley   +1 more source

Intralesional bleomycin sclerotherapy for cystic hygroma in children - as alternative treatment [PDF]

open access: yesAl 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  

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity [PDF]

open access: yes, 2003
Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 ...
Ermis Hayri   +4 more
core   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau   +10 more
wiley   +1 more source

Die chirurgische Versorgung cervikaler Lymphangiome im Kindesalter im Vergleich mit anderen Therapieverfahren [PDF]

open access: yes, 2008
Im Rahmen der Arbeit wurden die Daten von 32 kindern mit cervikalen Lymphangiomen ausgewertet, die zwischen 1984 und 1999 operiert wurden. Die bearbeiteten Fragestellungen waren: Lassen sich von der makroskopischen Größe Rückschlüsse auf die Prognose ...
Koester, Sven
core  

Dedicated First‐Trimester Anomaly Scan in a National Prenatal Screening Program and Timing of Diagnosis: The Prospective IMITAS Cohort Study

open access: yesBJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To determine the diagnostic yield of a nationally implemented first‐trimester anomaly scan (FTAS), compared to standard obstetric care with a second‐trimester anomaly scan. Design Prospective observational cohort study. Setting Nationwide prenatal screening program in the Netherlands.
Kim Bronsgeest   +38 more
wiley   +1 more source

Giant cystic hygroma of the neck with spontaneous rupture

open access: yesJournal of Indian Association of Pediatric Surgeons, 2007
Cystic hygroma is a disfiguring benign lesion commonly observed in the neck and face regions of children. The common complications of these malformations are respiratory obstruction, dysphagia, infection, and hemorrhage.
Kaur Navneet   +3 more
doaj  

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

open access: yesJournal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert   +4 more
wiley   +1 more source

Prenatal diagnosis of idic(9) [PDF]

open access: yes, 2015
Tetrasomy of the short arm of chromosome 9 is a rare chromosome imbalance that may result from a supernumerary isochromosome 9 with the most recurrent breakpoints being 9p10, 9q12 and 9q13.
Correia, H.   +8 more
core  

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