Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]
, 2020 Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E +30 more
core +2 more sources
Recognizable neonatal clinical features of aplasia cutis congenita [PDF]
, 2020 Background: Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isolated lesions in wellbeing newborns could often be undetected, and solitary lesions in the context of polymalformative syndromes could ...
Antona V. +5 more
core +1 more source
A unique case of a newborn with a hemangioma on the omphalocele sac
The Turkish Journal of Pediatrics, 2022 Background. Mass lesions of the umbilical cord are rare anomalies. There have been rare reports of hemangiomas of the umbilical cord, but the co-occurrence of omphalocele and hemangioma of the umbilical cord has not been previously reported ...
Elif Emel Erten +9 more
doaj +1 more source
Perforated Meckel's diverticulum within an omphalocele
Journal of Pediatric Surgery Case Reports, 2022 Failure of the abdominal wall to close and the persistence of the herniated bowel beyond week 12 gestation is known as an omphalocele. This condition occurs in 1 in 4000 live births and can be associated with several chromosomal anomalies and anatomical ...
Amel Mahgoub Abdalkarem +3 more
doaj +1 more source
Has the liver and other visceral organs migrated to its normal position in children with giant omphalocele? A follow-up study with ultrasonography [PDF]
, 2009 Contains fulltext : 88428.pdf (publisher's version ) (Closed access)This study evaluates whether, on the long run, in patients born with a giant omphalocele, the liver and other solid organs reach their normal position, shape, and size.
Carla Boetes +4 more
core +8 more sources
Additional Anomalies in Children with Gastroschisis and Omphalocele: A Retrospective Cohort Study
Children, 2023 Background: Congenital abdominal wall defects might be associated with other anomalies, such as atresia in gastroschisis and cardiac anomalies in omphalocele patients.
Adinda G. H. Pijpers +7 more
doaj +1 more source
Journal of Pediatric Surgery Case Reports, 2016 Perinatal omphalocele rupture is a rare occurrence. We present a case of a baby delivered at 35 weeks with a known giant omphalocele, transverse lie, and the omphalocele downward in the birth canal who suffered rupture of the omphalocele and liver injury
Maria E. Linnaus +4 more
doaj +1 more source
Management of giant omphalocele with intestinal perforation
Journal of Pediatric Surgery Case Reports, 2021 Case of a male infant delivered at 36 weeks of gestational age and found to have a giant omphalocele, later complicated by intestinal perforation. A giant omphalocele is an omphalocele with an opening greater than 5 cm in diameter and containing the ...
Ritah Chumdermpadetsuk +2 more
doaj +1 more source
Prenatal diagnosis of fetal omphalocele by ultrasound: A comparison of two centuries
Taiwanese Journal of Obstetrics & Gynecology, 2013 An omphalocele, a fetal abdominal defect, is a very important congenital anomaly. Prenatal diagnosis of fetal omphalocele is crucial to clinical management.
Yu-Ling Liang +6 more
doaj +1 more source
Geographic clusters of congenital anomalies in Argentina [PDF]
, 2016 Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time.
Barbero, Pablo +7 more
core +1 more source