Results 51 to 60 of about 4,673 (178)

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, Volume 46, Issue 5-6, Page 873-880, May 2026.
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

Adrenal glands in normal and anomalous foetuses - a comparative study

open access: yesNational Journal of Clinical Anatomy, 2017
Background and aim: Foetal adrenal gland is an important factor which determines neonatal survival. Adrenal hypoplasia can result in respiratory distress and neonatal death.
C Manju Madhavan
doaj   +1 more source

Cystic hygroma: Anaesthetic considerations in emergency excision

open access: yesNigerian Journal of Medicine, 2020
This is a case report of an 8-month-old male who presented with right huge infected haemorrhagic cystic hygroma with airway obstruction and pharyngotonsillitis. Right cystic hygroma was diagnosed at 3 months of age but was managed conservatively until he
I M Chukwu   +3 more
doaj   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang   +4 more
wiley   +1 more source

Ranula vs. Atypical Sublingual Branchial Cleft Cyst: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Congenital cystic lesions in the floor of the mouth in infants present significant diagnostic challenges owing to overlapping clinical and radiological features. We report a rare case of a one‐year‐old boy with a gradually enlarging, painless left sublingual swelling noticed since birth. Clinical examination revealed a soft, fluctuant 3 × 4 cm
Saleh Mohebbi   +3 more
wiley   +1 more source

Cystic Hygroma and Monosomy X

open access: yesGynecology Obstetrics & Reproductive Medicine, 2013
Cystic hygroma is a congenital malformation of the lymphatic system. They are associated with chromosomal abnormalities and major structural anomalies.
Aykut Özek   +3 more
doaj  

Recurrent bilateral cystic hygroma of the submandibular space in an adult patient

open access: yesSaudi Journal of Oral Sciences, 2015
Cystic hygroma is an uncommon type of benign neoplasm of lymphangioma commonly seen in children, rarely reported in adults. Most of the cases occur in head and neck region. The etiology and pathogenesis of this entity are still unclear.
Vijayalakshmi S Kotrashetti   +1 more
doaj   +1 more source

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

Axillary Cystic Hygroma [PDF]

open access: yesThe Journal of Pediatrics, 2021
Fong-Cheng Ho   +2 more
openaire   +2 more sources

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

open access: yesPrenatal Diagnosis, Volume 46, Issue 4, Page 581-588, April 2026.
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

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