Results 41 to 50 of about 17,137 (206)

Congenital diaphragmatic hernia

, 2021
Congenital diaphragmatic hernia occurs in 1–5/10,000 live births. It is characterized by a defect in the separation of the thoracic cavity from the abdominal cavity due to incomplete development of the diaphragm. It follows the herniation of abdominal viscera at the thoracic level with hypoplasia of the lung ipsilateral to the hernia.
Boonthai, Ampaipan, Losty, Paul D
openaire   +3 more sources

Congenital diaphragmatic hernia with hepatic heterotopia

Journal of Pediatric Surgery Case Reports, 2021
The association of congenital diaphragmatic hernia with hepatic heterotopia is a rare one that has been scarcely reported. We present a case of a female neonate with an antenatally diagnosed left congenital diaphragmatic hernia. Intra-operatively she was
Yasser AlFraih
doaj  

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Successful Repair of Congenital Morgagni Hernia and Ventricular Septal Defect via Median Sternotomy in a Patient with Down Syndrome, Anal Atresia, Pectus Carinatum and Congenital Hypothyroidism

Çocuk Dergisi, 2023
Here we report a 5-month-old female patient with Down syndrome who was successfully operated on due to congenital Morgagni hernia and ventricular septal defect concomitantly via median sternotomy.
Buğra Harmandar, Hande İştar
doaj   +1 more source

Current Controversies in Prenatal Diagnosis—Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks, Rogelio Cruz Martinez, Tim Van Mieghem   +2 more
wiley   +1 more source

Congenital diaphragmatic hernia [PDF]

Journal of British Surgery, 1922
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openaire   +3 more sources

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients

Pediatric Investigation, EarlyView.
NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li, Ming Cheng, Min Liu, Wenjing Li, Yuchuan Li, Bingyan Cao, Liya Wei, Yuan Ding, Xi Meng, Lele Li, Chunxiu Gong   +10 more
wiley   +1 more source

Long-term follow-up of patients with congenital diaphragmatic hernia

World Journal of Pediatric Surgery
Neonates with congenital diaphragmatic hernia encounter a number of surgical and medical morbidities that persist into adulthood. As mortality improves for this population, these survivors warrant specialized follow-up for their unique disease-specific ...
Terry L Buchmiller, Nicole Cimbak
doaj   +1 more source

Newborn male presented with congenital diaphragmatic hernia and choledochal cyst: A case report

Journal of Pediatric Surgery Case Reports, 2015
Infants with congenital diaphragmatic hernia (CDH) have an increased incidence of associated malformations, ranging from 10% to 50% higher than the general population [1–5]. Choedochal cysts, congenital cystic dilations of the biliary tree, are anomalies
Daniel Krebs, Richard S. Herman, Christopher Blewett   +2 more
doaj   +1 more source

Extrahepatic biliary obstruction secondary to a peritoneopericardial diaphragmatic hernia in a dog

Veterinary Record Case Reports, EarlyView.
Abstract A 16‐month‐old, entire, male dobermann presented for evaluation of emesis, anorexia and lethargy. Upon examination, the dog was found to be severely icteric. Serum biochemistry revealed an elevated total bilirubin and alkaline phosphatase, and computed tomographic imaging revealed a peritoneopericardial diaphragmatic hernia with abdominal ...
Emily Durocher, Hilary Schwafel, Kimberly Cronin, Maureen Spinner   +3 more
wiley   +1 more source