Macroglossia

La sindrome Beckwith-Wiedemann

Prada E, Selicorni A.

2023/7 — pag. 457-459 — DOI

Fisiopatologia dell’ipotiroidismo acquisito

Folegatti A, Cardani R, Vergori A.

2023/5 — pag. 331-334 — DOI

Acquired hypothyroidism represents a frequent challenge for paediatricians. Knowing the pathophysiological basis of this disease and its main clinical manifestations is closely linked to proper diagnostic and therapeutic management. As is well known,...

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,...

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...

Diagnosi di malattia di Pompe nel neonato

C. Amador, M. Sacchini, E. Agostini, E. Procopio, E. Laudani, P. Fiorini

2014/6

Pompe disease is an autosomal recessive storage disorder caused by a deficiency in the enzyme α-glucosidase, resulting in intralysosomal glycogen accumulation in skeletal and cardiac muscle. The classic infantile form is characterized by progres...

Che lingua grossa!

A. Filpo

2014/4

Sindrome di Beckwith-Wiedemann: un caso da ricordare

I. Coco, F. Moscuzza, L. Coccoli, F. Dini, A. Boldrini, P. Ghirri

2013/3

Ancora sulla macroglossia del DownL’appropriatezza del ricoveroAncora sulla fosfatasi alcalina

2003/1 — pag. 11-12

Sindrome di beckwith-wiedemann.macroglossia e crescita cranio-facciale:considerazioni e proposte

E. Viva, E. Viva, M. Ruggiero, L. Ruggiero

2001/3 — pag. 191-192

Description of a Beckwith-Wiedemann syndrome case (annular hernia with rectal diastase; neonatal visceromegaly, then regressed; macrosomia, then regressed; macroglossia; other minor anomalies). This case is peculiar because it is relatively not se...