title: Fetal growth patterns in Beckwith-Wiedemann syndrome.
abstract: We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages and neonatal growth parameters of 247 BWS patients were compared by calculating gestational age-corrected standard deviation scores (SDS) and proportionality indexes to search for differences among IC1-GoM (n = 21), UPD (n = 87), IC2-LoM (n = 147), and CDKN1C mutation (n = 11) patients. In IC1-GoM subgroup, weight and length are higher than in other subgroups. Body proportionality indexes display the following pattern: highest in IC1-GoM patients, lowest in IC2-LoM/CDKN1C patients, intermediate in UPD ones. Prematurity was significantly more prevalent in the CDKN1C (64%) and IC2-LoM subgroups (37%). Fetal growth patterns are different in the four molecular subtypes of BWS and remarkably consistent with altered gene expression primed by the respective molecular mechanisms. IC1-GoM cases show extreme macrosomia and severe disproportion between weight and length excess. In IC2-LoM/CDKN1C patients, macrosomia is less common and associated with more proportionate weight/length ratios with excess of preterm birth. UPD patients show growth patterns closer to those of IC2-LoM, but manifest a body mass disproportion rather similar to that seen in IC1-GoM cases.
authors: Department of Pediatric and Public Health Sciences, University of Turin, Turin, Italy.
authors: A
authors: http://orcid.org/0000-0003-2795-6013
authors: A
authors: Mussa
authors: Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.
authors: S
authors: S
authors: Russo
authors: DiSTABiF, Second University of Naples, Naples, Italy.
authors: A
authors: A
authors: de Crescenzo
authors: DiSTABiF, Second University of Naples, Naples, Italy.
authors: A
authors: A
authors: Freschi
authors: Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.
authors: L
authors: L
authors: Calzari
authors: Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, Monza, Italia.
authors: S
authors: S
authors: Maitz
authors: Rare Disease and Medical Genetics Unit, Bambino Gesù Children Hospital, Rome, Italy.
authors: M
authors: M
authors: Macchiaiolo
authors: Department of Pediatric and Public Health Sciences, University of Turin, Turin, Italy.
authors: C
authors: C
authors: Molinatto
authors: Department of Pediatric and Public Health Sciences, University of Turin, Turin, Italy.
authors: G
authors: G
authors: Baldassarre
authors: Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, Monza, Italia.
authors: M
authors: M
authors: Mariani
authors: Department of Pediatric and Pediatric Neuropsychiatry, Sapienza University, Rome, Italy.
authors: L
authors: L
authors: Tarani
authors: Medical Genetics Unit, IRCCS Ca' Granda Foundation, Ospedale Maggiore Policlinico, Milan, Italy.
authors: M F
authors: MF
authors: Bedeschi
authors: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: D
authors: D
authors: Milani
authors: Clinical Pediatric Genetics, Department of Pediatrics, University "Federico II", Naples, Italy.
authors: D
authors: D
authors: Melis
authors: Rare Disease and Medical Genetics Unit, Bambino Gesù Children Hospital, Rome, Italy.
authors: A
authors: A
authors: Bartuli
authors: Department of Biology, University of Naples Federico II, Naples, Italy.
authors: M V
authors: MV
authors: Cubellis
authors: Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, Monza, Italia.
authors: A
authors: A
authors: Selicorni
authors: Department of Pediatric and Public Health Sciences, University of Turin, Turin, Italy.
authors: M C
authors: MC
authors: Silengo
authors: Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.
authors: L
authors: L
authors: Larizza
authors: DiSTABiF, Second University of Naples, Naples, Italy.|Institute of Genetics and Biophysics "A. Buzzati-Traverso" - CNR, Naples, Italy.
authors: A
authors: A
authors: Riccio
authors: Department of Pediatric and Public Health Sciences, University of Turin, Turin, Italy.
authors: G B
authors: GB
authors: Ferrero
mesh_terms: D000886:Anthropometry; D001506:Beckwith-Wiedemann Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002880:Chromosomes, Human, Pair 11 / Q000737:chemistry; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000235:genetics*; D019175:DNA Methylation; D047109:Fetal Development / Q000235:genetics*; D005333:Fetus; D015870:Gene Expression; D018392:Genomic Imprinting; D005838:Genotype; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D047928:Premature Birth; D024182:Uniparental Disomy
chemical_list: C493964:CDKN1C protein, human; D050761:Cyclin-Dependent Kinase Inhibitor p57
keywords: Beckwith-Wiedemann; fetal growth; genotype; overgrowth; phenotype