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

