Two unrelated children with features of Beckwith-Wiedemann syndrome have been found to have partial duplication of chromosome 11p. A review of six other reported cases of partial duplication of 11 p revealed features of this syndrome not previously recognized. We suggest that karyotype studies with banding techniques should be done in children with features of Beckwith-Wiedemann syndrome and developmental delay or retardation.
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http://dx.doi.org/10.1016/s0022-3476(83)80014-6 | DOI Listing |
Eur J Obstet Gynecol Reprod Biol
January 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara Bilkent City Hospital, Ankara, Turkey; University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.
Placental mesenchymal dysplasia (PMD) is a rare placental pathology that sonographically mimics gestational trophoblastic diseases. However, mesenchymal dysplasia can be distinguished from other conditions by the presence of villous edema and the absence of trophoblastic proliferation in the placental tissue. This pathology has been demonstrated to be associated with fetal growth restriction, Beckwith-Wiedemann syndrome, some chromosomal abnormalities and intrauterine fetal demise.
View Article and Find Full Text PDFJCEM Case Rep
January 2025
Department of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
A male neonate exhibited hallmark features of Beckwith-Wiedemann syndrome (BWS) including large for gestational age, macroglossia, multiple ear pits, and umbilical hernia. He had neonatal hypoglycemia, requiring a glucose infusion rate of 9.7 mg/kg/min.
View Article and Find Full Text PDFJ Craniofac Surg
January 2025
Division of Plastic Surgery, Department of Surgery, Dalhousie University.
Introduction: Macroglossia is a frequent clinical feature of Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder. Macroglossia can lead to abnormal breathing, feeding, speech, and dentoskeletal development. Partial glossectomy is a common intervention aimed at reducing these abnormalities.
View Article and Find Full Text PDFCancers (Basel)
November 2024
Department of Public Health and Pediatrics, University of Torino, 10126 Torino, Italy.
Background/objectives: Adrenocortical tumors (ACTs), including adrenocortical adenoma (ACA) and carcinoma (ACC), represent 0.3-0.4% of pediatric tumors.
View Article and Find Full Text PDFClin Genet
December 2024
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
To assess the suitability of genome sequencing (GS) as the second step in the diagnostics of patients with the features of 11p15.5-associated imprinting disorders (ImpDis: Silver-Russell syndrome [SRS], Beckwith-Wiedemann syndrome [BWS]), we performed short-read GS in patients negatively tested for imprinting disturbances. Obtaining a genetic diagnosis for patients with the features of these syndromes is challenging due to the clinical and molecular heterogeneity and overlap, and many patients remain undiagnosed after the currently suggested stepwise diagnostic workup.
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