Results 61 to 70 of about 5,018 (164)
Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma
Clinical Case Reports, Volume 14, Issue 3, March 2026.Axial slice CT abdomen pelvis with portal venous contrast, revealing a well circumscribed 22 × 20 × 22 mm left adrenocortical adenocarcinoma (ACC) in a patient with neurofibromatosis type 1 (NF1). ABSTRACT Although rare, adrenocortical carcinoma (ACC) should be considered in individuals with neurofibromatosis type 1 (NF1) presenting with adrenal ...
Zachary Pluim +6 more
wiley +1 more source
Journal of Forensic Sciences, Volume 71, Issue 2, Page 1050-1057, March 2026.Abstract In typical inheritance, a child receives one chromosome of each pair from each parent. In rare cases, however, both chromosomes may be inherited from the same parent, a phenomenon known as uniparental disomy (UPD). In forensic kinship testing, UPD can lead to Mendelian inconsistencies between parent and child, increasing the risk of ...
Hannah Fontanil +3 more
wiley +1 more source
Syndromes and Disorders Associated with Omphalocele (I): Beckwith–Wiedemann Syndrome
Taiwanese Journal of Obstetrics & Gynecology, 2007 Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental mesenchymal dysplasia,
Chih-Ping Chen
doaj +1 more source
Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening [PDF]
Archives of Endocrinology and MetabolismSUMMARY Beckwith-Wiedemann syndrome (BWS) is a common genetic congenital disease characterized by somatic overgrowth and its broad clinical spectrum includes pre- and post-natal macrosomia, macroglossia, visceromegaly, increased risk of neonatal ...
Jéssica Mallmann Erbes Schaefer Martins +12 more
doaj +1 more source
An Unusual Motor OFF in Parkinson's Disease
Movement Disorders Clinical Practice, Volume 13, Issue 4, Page 1085-1087, April 2026.
Shreyashi Jha, Mandar S. Jog
wiley +1 more source
BECKWITH-WIEDEMANN SYNDROME: CASE REPORT
Eurasian Journal of Medicine, 2019 A case of Beckwith-Wiedemann Syndrome is presented here in a two-month-old female with macroglossia, macrosomia, visseromegalia, anomaly of ear, umbilical hernia, and characteristically hemihypertrophy.
Vildan Ertekin +2 more
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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
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Beckwith-Wiedemann Syndrome With Renal Agenesis
Turkish Journal of Nephrology, 2019 -
İbrahim GÖKÇE +4 more
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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
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