Skip to main content
Log in

Sindromi da iperaccrescimento: aspetti clinici e genetici

  • RASSEGNA
  • Published:
L'Endocrinologo Aims and scope

Sommario

Le sindromi da iperaccrescimento sono condizioni congenito-malformative caratterizzate da crescita eccessiva generalizzata o localizzata, coinvolgimento cognitivo, malformazioni d’organo, segni fenotipici distintivi e predisposizione neoplastica. Sono condizioni frequentemente di pertinenza endocrinologica, coinvolgendo in prima istanza la crescita staturo-ponderale. Le condizioni ad oggi meglio caratterizzate e maggiormente rappresentate sono la sindrome di Beckwith-Wiedemann, di Sotos, di Malan, Marshall-Smith, Weaver, Simpson-Golabi, Tatton-Brown.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2

Bibliografia

  1. Edmondson AC, Kalish JM (2015) Overgrowth syndromes. J Pediatr Genet 4:136–143

    Article  Google Scholar 

  2. Kamien B, Ronan A, Poke G et al. (2018) A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing. Mol Syndromol 9:70–82

    Article  CAS  Google Scholar 

  3. Shuman C, Beckwith JB, Smith AC, Weksberg R (1993–2013) Beckwith-Wiedemann syndrome. In: Pagon RA, Adam MP, Bird TD et al (eds) GeneReviews. University of Washington, Seattle

  4. Mussa A, Russo S, De Crescenzo A et al. (2016) (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. Eur J Hum Genet 24(2):183–190

    Article  CAS  Google Scholar 

  5. Tatton-Brown K, Douglas J, Coleman K et al. (2005) Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 77:193–204

    Article  CAS  Google Scholar 

  6. Tatton-Brown K, Cole TR, Rahman N (2004) Sotos syndrome. In: Adam MP, Ardinger HH, Pagon RA et al. (eds) GeneReviews®. University of Washington, Seattle

    Google Scholar 

  7. Malan V, Rajan D, Thomas S et al. (2010) Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet 87:189–198

    Article  CAS  Google Scholar 

  8. Priolo M, Schanze D, Tatton-Brown K et al. (2018) Further delineation of Malan syndrome. Human Mutat 39:1226–1237

    Article  CAS  Google Scholar 

  9. Martinez F, Marin-Reina P, Sanchis-Calvo A et al. (2015) Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Pediatr Res 78:533–539

    Article  CAS  Google Scholar 

  10. Tatton-Brown K, Rahman N (2013) EZH2-related overgrowth. In: Adam MP, Ardinger HH, Pagon RA et al. (eds) GeneReviews. University of Washington, Seattle

    Google Scholar 

  11. Tenorio J, Arias P, Martínez-Glez V et al. (2014) Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis 9:13

    Article  Google Scholar 

  12. Tatton-Brown K, Zachariou A, Loveday C et al. (2018) The Tatton-Brown-Rahman syndrome: a clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome Open Res 3:46

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Laura Mazzanti.

Ethics declarations

Conflitto di interesse

Le autrici Federica Tamburrino, Emanuela Scarano, Annamaria Perri, Margherita Costa e Laura Mazzanti dichiarano di non avere conflitti di interesse.

Consenso informato

Lo studio presentato in questo articolo non ha richiesto sperimentazione umana.

Studi sugli animali

Le autrici di questo articolo non hanno eseguito studi sugli animali.

Additional information

Proposta da Roberto Toni.

Materiale elettronico supplementare

I link al materiale elettronico supplementare sono elencati qui sotto.

(DOCX 16 kB)

(DOCX 15 kB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Tamburrino, F., Scarano, E., Perri, A. et al. Sindromi da iperaccrescimento: aspetti clinici e genetici. L'Endocrinologo 20, 257–260 (2019). https://doi.org/10.1007/s40619-019-00611-3

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s40619-019-00611-3

Parole chiave

Navigation