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Literature DB >> 28475229

Nomenclature and definition in asymmetric regional body overgrowth.

Jennifer M Kalish¹, Leslie G Biesecker², Frederic Brioude³, Matthew A Deardorff¹, Alessandra Di Cesare-Merlone⁴, Todd Druley⁵, Giovanni B Ferrero⁶, Pablo Lapunzina⁷, Lidia Larizza⁸, Saskia Maas⁹, Marina Macchiaiolo¹⁰, Eamonn R Maher¹¹, Silvia Maitz¹², Julian A Martinez-Agosto¹³, Alessandro Mussa⁶, Peter Robinson¹⁴, Silvia Russo⁸, Angelo Selicorni¹⁵, Raoul C Hennekam¹⁶.

Abstract

We designate a novel term "isolated lateralized overgrowth" (ILO) for the findings previously described as "isolated hemihypertrophy" and "isolated hemihyperplasia." ILO is defined as lateralized overgrowth in the absence of a recognized pattern of malformations, dysplasia, or morphologic variants. ILO is likely genetically heterogeneous. Further study is required to determine more of the underlying genetic etiologies and potential associations with currently unrecognized patterns of malformation.

Entities: Disease Species

Keywords: Beckwith-Wiedemann syndrome; isolated hemihyperplasia; isolated hemihypertrophy; isolated lateralized overgrowth; isolated unilateral overgrowth; lateralized overgrowth; segmental overgrowth

Year: 2017 PMID： 28475229 PMCID： PMC5932268 DOI： 10.1002/ajmg.a.38266

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

11 in total

1. Elements of morphology: general terms for congenital anomalies.

Authors: Raoul C Hennekam; Leslie G Biesecker; Judith E Allanson; Judith G Hall; John M Opitz; I Karen Temple; John C Carey
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2. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.

Authors: Saskia M Maas; Fleur Vansenne; Daniel J M Kadouch; Abdulla Ibrahim; Jet Bliek; Saskia Hopman; Marcel M Mannens; Johannes H M Merks; Eamonn R Maher; Raoul C Hennekam
Journal: Am J Med Genet A Date: 2016-07-15 Impact factor: 2.802

3. Clinical anthropometrics and body composition from 3D whole-body surface scans.

Authors: B K Ng; B J Hinton; B Fan; A M Kanaya; J A Shepherd
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Review 4. DXA: Technical aspects and application.

Authors: Alberto Bazzocchi; Federico Ponti; Ugo Albisinni; Giuseppe Battista; Giuseppe Guglielmi
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5. Limb bone bilateral asymmetry: variability and commonality among modern humans.

Authors: Benjamin M Auerbach; Christopher B Ruff
Journal: J Hum Evol Date: 2005-11-28 Impact factor: 3.895

6. Elements of morphology: introduction.

Authors: Judith E Allanson; Leslie G Biesecker; John C Carey; Raoul C M Hennekam
Journal: Am J Med Genet A Date: 2009-01 Impact factor: 2.802

7. Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol.

Authors: Alessandro Mussa; Cristina Molinatto; Giuseppina Baldassarre; Evelise Riberi; Silvia Russo; Lidia Larizza; Andrea Riccio; Giovanni Battista Ferrero
Journal: J Pediatr Date: 2016-06-29 Impact factor: 4.406

8. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia.

Authors: Carol L Clericuzio; Rick A Martin
Journal: Genet Med Date: 2009-03 Impact factor: 8.822

9. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Authors: Silvia Russo; Luciano Calzari; Alessandro Mussa; Ester Mainini; Matteo Cassina; Stefania Di Candia; Maurizio Clementi; Sara Guzzetti; Silvia Tabano; Monica Miozzo; Silvia Sirchia; Palma Finelli; Paolo Prontera; Silvia Maitz; Giovanni Sorge; Annalisa Calcagno; Mohamad Maghnie; Maria Teresa Divizia; Daniela Melis; Emanuela Manfredini; Giovanni Battista Ferrero; Vanna Pecile; Lidia Larizza
Journal: Clin Epigenetics Date: 2016-03-01 Impact factor: 6.551

10. Growth and hormone profiling in children with congenital melanocytic naevi.

Authors: R Waelchli; J Williams; T Cole; M Dattani; P Hindmarsh; H Kennedy; A Martinez; S Khan; R K Semple; A White; N Sebire; E Healy; G Moore; V A Kinsler
Journal: Br J Dermatol Date: 2015-11-17 Impact factor: 9.302

14 in total

1. Development of the Serum α-Fetoprotein Reference Range in Patients with Beckwith-Wiedemann Spectrum.

Authors: Kelly A Duffy; Jennifer L Cohen; Okan U Elci; Jennifer M Kalish
Journal: J Pediatr Date: 2019-06-22 Impact factor: 4.406

2. Beckwith-Wiedemann syndrome in diverse populations.

Authors: Kelly A Duffy; Brian J Sajorda; Alice C Yu; Evan R Hathaway; Katheryn L Grand; Matthew A Deardorff; Jennifer M Kalish
Journal: Am J Med Genet A Date: 2019-02-04 Impact factor: 2.802

3. Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.

Authors: Kelly A Duffy; Christopher M Cielo; Jennifer L Cohen; Christina X Gonzalez-Gandolfi; Jessica R Griff; Evan R Hathaway; Jonida Kupa; Jesse A Taylor; Kathleen H Wang; Arupa Ganguly; Matthew A Deardorff; Jennifer M Kalish
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4. Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.

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Journal: Pediatr Blood Cancer Date: 2018-06-22 Impact factor: 3.167

Review 5. Overgrowth syndromes - clinical and molecular aspects and tumour risk.

Authors: Frédéric Brioude; Annick Toutain; Eloise Giabicani; Edouard Cottereau; Valérie Cormier-Daire; Irene Netchine
Journal: Nat Rev Endocrinol Date: 2019-05 Impact factor: 43.330

Review 6. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Authors: Frédéric Brioude; Jennifer M Kalish; Alessandro Mussa; Alison C Foster; Jet Bliek; Giovanni Battista Ferrero; Susanne E Boonen; Trevor Cole; Robert Baker; Monica Bertoletti; Guido Cocchi; Carole Coze; Maurizio De Pellegrin; Khalid Hussain; Abdulla Ibrahim; Mark D Kilby; Malgorzata Krajewska-Walasek; Christian P Kratz; Edmund J Ladusans; Pablo Lapunzina; Yves Le Bouc; Saskia M Maas; Fiona Macdonald; Katrin Õunap; Licia Peruzzi; Sylvie Rossignol; Silvia Russo; Caroleen Shipster; Agata Skórka; Katrina Tatton-Brown; Jair Tenorio; Chiara Tortora; Karen Grønskov; Irène Netchine; Raoul C Hennekam; Dirk Prawitt; Zeynep Tümer; Thomas Eggermann; Deborah J G Mackay; Andrea Riccio; Eamonn R Maher
Journal: Nat Rev Endocrinol Date: 2018-01-29 Impact factor: 43.330

7. Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.

Authors: Alice Maguolo; Franco Antoniazzi; Alice Spano; Elena Fiorini; Rossella Gaudino; Margherita Mauro; Gaetano Cantalupo; Paolo Biban; Silvia Maitz; Paolo Cavarzere
Journal: Ital J Pediatr Date: 2018-09-19 Impact factor: 2.638