Results 61 to 70 of about 4,847 (135)

Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non‐Isolated Clubfoot?

Prenatal Diagnosis, Volume 46, Issue 1, Page 30-38, January 2026.
ABSTRACT Objective The aim of this study is to evaluate the efficacy of prenatal second trimester ultrasound in diagnosing isolated congenital clubfoot and to assess the role of prenatal genetic testing. Methods We conducted a retrospective cohort study in the North‐West region of the Netherlands with prenatally suspected clubfoot between 16 and 24 ...
Jana M. de Vries, Arda Arduc, Elisabeth van Leeuwen, Maria B. Tan – Sindhunata, Peter Struijs, Melinda Witbreuk, Ingeborg H. Linskens, Eva Pajkrt   +7 more
wiley   +1 more source

Whole‐genome paternal uniparental disomy identified through prenatal single‐nucleotide polymorphism‐based cell‐free DNA screening

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 1, Page 73-78, January 2026.
ABSTRACT Objective Prenatal single‐nucleotide polymorphism (SNP)‐based cell‐free DNA (cfDNA) screening can identify genome‐wide paternal uniparental disomy (GW‐UPDpat), including cases with complete hydatidiform mole with a coexisting fetus (CHMCF), those with placental mesenchymal dysplasia (PMD) and those with a mosaic/chimeric GW‐UPDpat syndrome ...
P. Benn, K. Hashimoto, V. Souter, R. Dhamankar, W. Xu, D. Kijacic   +5 more
wiley   +1 more source

Beckwith-Wiedemann syndrome [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
  +7 more sources

Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith–Wiedemann Syndrome: A Case Report and Review of the Literature

Case Reports in Genetics, 2020
In this report, the case of a 24-year-old female with Beckwith–Wiedemann Syndrome (BWS) who was diagnosed with well-differentiated hepatocellular carcinoma (HCC) is described.
Carolyn G. Ahlers, Quoc-Huy Trinh, Martin Montenovo   +2 more
doaj   +1 more source

Beckwith–Wiedemann Syndrome

Journal of Bangladesh College of Physicians and Surgeons, 2015
Beckwith–Wiedemann syndrome (BWS) is a disorder of growth regulation characterized by macrosomia, macroglossia and developmental abnormalities with a predisposition to tumour development. The diagnosis of Beckwith-Wiedemann syndrome may be missed because of variable or incomplete clinical expression.
Nazmun Nahar, Kishwar Azad, Tahmina Begum, Rubaiya Islam, Fauzia Mohsin   +4 more
openaire   +2 more sources

Glosectomía parcial en un paciente con el síndrome de Beckwith-Wiedemann

Revista Cubana de Estomatología, 1998
Se describe el caso de un niño de 12 años de edad con el síndrome de Beckwith-Wiedemann, cuyo signo relevante fue la macroglosia, entidad patológica que puede modificar severamente el desarrollo de los dientes, del esqueleto facial y ocasionar ...
Manuel Estrada Sarmiento
doaj  

Beckwith-Wiedemann syndrome. [PDF]

Journal of Medical Genetics, 1994
M, Elliott, E R, Maher
openaire   +2 more sources

Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant

Case Reports in Pediatrics, 2014
We report here the case of the youngest patient with adenomyomatosis of the gallbladder in a female infant diagnosed at 4 months of age. This diagnosis was made based on characteristic ultrasonography findings in a patient that was undergoing routine ...
Yuri A. Zarate, Katherine A. Bosanko, Chaowapong Jarasvaraparn, Jaime Vengoechea, Elizabeth M. McDonough   +4 more
doaj   +1 more source

Clinical and Molecular Characteristics of Children with Beckwith-Wiedemann Syndrome and Isolated Hemihyperplasia at Sultan Qaboos University Hospital with their Surveillance Outcomes

Oman Medical Journal
Objectives: Beckwith-Wiedemann syndrome (BWS) is a rare genetic and cancer-predisposing disorder characterized by variable clinical and molecular abnormalities.
Ayat Sulayiam Al-Hinai, Almundher Al-Maawali, Adila Al-Kindi, Abeer Al-Saegh, Khalid Al-Thihli, Ghada A. Otaify   +5 more
doaj   +1 more source

Omphalocoeles: A decade in review

South African Journal of Child Health, 2016
Background. Omphalocoeles are associated with significant morbidity and mortality. The presentation varies greatly and management options differ accordingly. Limited literature exists regarding the varied presentation, associated congenital abnormalities
Simmi Singh, Anil Madaree
doaj