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A case report of beckwith-wiedemann syndrome [PDF]

Journal of Kerman University of Medical Sciences, 2002
beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal ...
B Basiri, M SHekohi
doaj  

Survival for Children Diagnosed With Wilms Tumour (2012–2022) Registered in the UK and Ireland Improving Population Outcomes for Renal Tumours of Childhood (IMPORT) Study

Pediatric Blood &Cancer, Volume 73, Issue 3, March 2026.
ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga, Angela Lopez‐Cortes, Reem Al‐Saadi, Suzanne Tugnait, Kristina Dzhuma, Catriona Duncan, Gordan Vujanic, Tanzina Chowdhury, Claudia Allemani, Michel P. Coleman, Kathy Pritchard‐Jones, the Children's Cancer and Leukaemia Group (CCLG) Renal Tumour Special Interest Group, Hugh Bishop, Anthony McCarthy, Pamela Kearns, Helen Rees, Amos Burke, Meriel Jenney, Jane Pears, Hamish Wallace, Milind Ronghe, Tanzina Chowdhury, Susan Picton, Emma Ross, Lisa Howell, Bernadette Brennan, Gail Halliday, Richard Grundy, Shaun Wilson, Sucheta Vaidya, Daniel Yeomanson, Jessica Bate, Vesna Pavasovic, Jessica Bate, Sabine Irtan, Jesper Brok, Minou Oostveen, Kristina Dzhuma, Mark Weeks, Richard Williams, Mark Powis, Max Pachl, Bruce Okoye, Naima Smeulders, Gordan Vujanic, Oystein Olsen, Tom Watson, Susan Shelmerdine, Dan Saunders, Angela Lopez-Cortes, Taryn Treger, Tom Jackson, Suzanne Tugnait, Lisa Howell, Tanzina Chowdhury, Sam Behjati, Angela Polanco   +56 more
wiley   +1 more source

Incidence and Outcome of Infants With Cancer in Canada: A Report From Cancer in Young People in Canada Database

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Purpose Infants with cancer are rare and face unique challenges. Our study aims to describe the incidence of infantile cancers in Canada and to compare treatment‐related mortality (TRM) and their outcomes with those of older children. Methods We conducted a retrospective cohort study using the Cancer in Young People in Canada database ...
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Sylvia Cheng, Lesleigh Abbott, Tony Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Donna L. Johnston, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +22 more
wiley   +1 more source

Tall stature due to Beckwith Wiedemann Syndrome

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2018
Tall stature is less commonly referred to specialist care. Familial, nutritional and hormonal causes are mainly encountered. Beckwith Wiedemann Syndrome (BWS) is a rare congenital disease, referred as an overgrowth syndrome.
Dharshini Karuppiah, Mithusha Markandu
doaj   +1 more source

Necrotizing enterocolitis following diazoxide therapy for persistent neonatal hypoglycemia

Journal of Pediatric Surgery Case Reports, 2020
Recalcitrant neonatal hypoglycemia poses a treatment challenge for clinicians. When a patient's hypoglycemia does not respond to dextrose infusion, several medication options are available, including diazoxide(1,2).
Christina M. Theodorou, Shinjiro Hirose
doaj   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2012
With the advent of prenatal sonography, fetal overgrowth can be easily detected. Prenatal-onset overgrowth can be secondary to normal variants of familial tall stature, familial rapid maturation, diabetic macrosomia, and congenital nesidioblastosis, or ...
Chih-Ping Chen
doaj   +1 more source

PERSISTENT HYPOGLYCAEMIA IN A NEWBORN – CASE REPORT OF A GIRL WITH BECKWITH-WIEDEMANN SYNDROME

Slovenska pediatrija, 2022
Hypoglycaemia is a common metabolic disorder in new-borns. It is defined as a blood sugar level below 2.2 mmol/l in the first 24 hours of life and below 2.6 mmol/l from 24 to 48 hours after birth.
Mojca Kavčič, Jana Lozar Krivec, Magdalena Avbelj Stefanija   +2 more
doaj   +1 more source

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report a female infant with cardiofaciocutaneous syndrome type 4 (CFC4), an ultra‐rare RASopathy caused by a heterozygous MAP2K2 (c.619G>A, p.Glu207Lys) variant. From birth, she presented with neonatal hypotonia, respiratory distress, and feeding dysfunction characterized by absent sucking reflex, orofacial hypotonia, and sensory ...
Aleksandra Świeca, Małgorzata Rydzanicz, Rafal Ploski, Krzysztof Szczałuba   +3 more
wiley   +1 more source

Placental mesenchymal dysplasia: case report with gross and histological findings

Autopsy and Case Reports, 2014
Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi.
Marcello Pecoraro Toscano, Regina Schultz   +1 more
doaj   +1 more source