Results 51 to 60 of about 5,018 (164)

Tall stature due to Beckwith Wiedemann Syndrome

open access: yesSri 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

open access: yesJournal 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

Clinicopathological Characteristics and Outcomes of Genitourinary Rhabdomyosarcoma in Two Girls

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Rhabdomyosarcoma (RMS) is a soft tissue neoplasm accounting for about 8% of solid tumors in children. There are mainly four histologic subtypes of RMS: embryonal, alveolar, spindle cell/sclerosing, and pleomorphic. The genitourinary tract is the second most affected primary site of RMS. Genitourinary RMS is more common in young boys than girls.
George Evele   +3 more
wiley   +1 more source

Placental mesenchymal dysplasia: case report with gross and histological findings

open access: yesAutopsy 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   +1 more
doaj   +1 more source

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

open access: yesSlovenska 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   +2 more
doaj   +1 more source

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

open access: yesPharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk   +27 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

open access: yesTaiwanese 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

Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis

open access: yesJournal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after ...
Maayke A. de Koning   +6 more
wiley   +1 more source

Placental Mesenchymal Dysplasia: Ultrasound Characteristics and Diagnostic Pitfalls

open access: yesUltrasound International Open, 2020
Introduction Placental mesenchymal dysplasia (PMD) is a rare, benign developmental anomaly with a reported prevalence of 0.02% (Arizawa and Nakayama, 2002).
Alexandros Psarris   +9 more
doaj   +1 more source

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

open access: yesPediatric 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   +56 more
wiley   +1 more source

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