Bilateral Wilms tumour: a review of clinical and molecular features [PDF]
, 2017 Wilms tumour (WT) is the most common paediatric kidney cancer and affects approximately one in 10 000 children. The tumour is associated with undifferentiated embryonic lesions called nephrogenic rests (NRs) or, when diffuse, nephroblastomatosis. WT or
Bergeron, C +3 more
core +1 more source
Uniparental Disomy and Genomic Imprinting in Humans [PDF]
, 2017 Uniparental disomy (UPD), the inheritance of both homologues from one chromosome from the same parent, was first proposed in 1980 by Erik Engel [1] to be a potential cause of congenital developmental defects in hymans.
Schinzel, A.
core
Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports. [PDF]
, 2016 Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of ...
Corsello G +8 more
core +1 more source
Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome
Journal of Clinical Sleep Medicine (JCSM), 2019 Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder that includes a spectrum of clinical findings including macroglossia, especially in those with loss of methylation at the imprinting control region (IC2 LOM) on chromosome 11 ...
C. Cielo +4 more
semanticscholar +1 more source
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester [PDF]
, 2015 Branchio-oto-renal syndrome combines branchial arch defects, hearing impairment and renal malformations or hypoplasia. Due to the high phenotypic variability, prenatal diagnosis has a limited prognostic value in mutation-positive cases.
Bertucci, Emma +5 more
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A rare case of Beckwith–Wiedemann syndrome caused by a de novo microduplication at 11p15.5 of paternal origin [PDF]
, 2011 Beckwith–Wiedemann syndrome (BWS) is a disorder of growth regulation exhibiting somatic overgrowth and predisposition to paediatric tumours. With an incidence estimated at 1 in 13,700, it is caused by various epigenetic and/or genetic alterations ...
Alves, Cristina +6 more
core
Genetic and Epigenetic Factors Contributing to Autism Spectrum Disorders [PDF]
, 2009 Autism spectrum disorders represent a group of developmental disorders with strong genetic predisposition, including numerous monogenic disorders and chromosomal abnormalities.
Chung, BHY
core
To Be or not to Be? A Critical Appraisal of the Welfare of Children Conceived through New Reproductive Technologies [PDF]
, 2008 Over three million children are believed to have been born worldwide - and over 200,000 annually - as a result of “new reproductive technologies” (NRTs).
Blyth, Eric
core +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
doaj
Journal of Bangladesh College of Physicians and Surgeons, 2015 BeckwithWiedemann 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 +4 more
openaire +2 more sources