Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Chromosomes, Human, Pair 11

Cells Cellular Structures Chromosomes Chromosomes, Mammalian Chromosomes, Human Chromosomes, Human, 6-12 and X

3 articoli — 2015-2024

RI Se la conosci la riconosci
La sindrome di Silver-Russel

Prada E, Scupilliti S, Selicorni A.

2024/8 — pag. 515-517 — DOI

RI Consensus
La sindrome di Beckwith-Wiedemann

A. De Paoli, A. Di Francesco, A. Selicorni

2019/8 — pag. 509-517

Beckwith-Wiedemann syndrome is a multisystemic disease mostly caused by genomic imprinting pattern anomalies of the 11p15.5 region. BWS is characterised by a very wide clinical spectrum starting from the more classical form (overgrowth, macroglossia,...

RI Percorsi clinici
Ipoglicemia neonatale, emipertrofia e macroglossia: quale diagnosi?

V. Graziani, M. Mainetti, A. Zucchini, M. Poli, A. Sensi, S. Russo, F. Marchetti

2015/1 — pag. 44-49

The paper describes the case of an infant with neonatal hypoglycaemia, hemihyperplasia, and macroglossia and the diagnostic process that leads to the confirmation of Beckwith- Wiedemann syndrome (BWS). BWS is an overgrowth disorder caused by epimut...

Argomenti correlati
Hypoglycemia (51) Growth retardation (22) Genetic Counseling (19) Ritardo di crescita (17) Fetal Growth Retardation (15) Neonatal hypoglycemia (14) Ipoglicemia neonatale (14) Mosaicism (11) Macroglossia (11) Genomic Imprinting (11) Beckwith-Wiedemann Syndrome (11) DNA Methylation (11) Sindrome di Beckwith-Wiedemann (10) Uniparental Disomy (9) Wilms Tumor (9) Hemihypertrophy (6) Imprinting genomico (5) Hernia, Umbilical (4) Disomia uniparentale (4) Iperaccrescimento (4)