The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.

doi:10.1016/j.cppeds.2015.03.001

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Article

The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.

Current problems in pediatric and adolescent health care - 1 Apr 2015

Pappas John G

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is the most common genetic overgrowth syndrome, and it is frequently clinically recognizable because of characteristic features. These features include macrosomia, hemihypertrophy, macroglossia, facial nevus flammeus, earlobe creases and pits, omphalocele, and organomegaly. The most common molecular cause is hypomethylation of the maternal imprinting control region 2 (ICR2) in...

Topics

Anxiety
Beckwith-Wiedemann Syndrome
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 11
Comparative Genomic Hybridization
DNA Methylation
Female
Humans
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Neoplasms

Parents

Phenotype

Physician-Patient Relations

Watchful Waiting

Source

Open in PubMed

Identifiers

PMID: 25861997
DOI: 10.1016/j.cppeds.2015.03.001

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