syndrome

Disartria e strabismo: due sorelle, una dopo l’altra. Ovvero: quando lo streptococco dà ai nervi

F. Galdo, V. Pintabona, M. Bramuzzo, F. Pellegrini, A. Ventura

2018/3

Guillain-Barré syndrome (GBS) may follow infections such as Campylobacter jejuni, cytomegalovirus and Haemophilus influenzae infections. The paper describes two familiar cases of polyneuritis cranialis, an oculopharyngeal subtype of GBS, which appear...

Approccio metodologico “di base” al bambino con sospetta sindrome malformativa

P. Cianci, F. Zanetto, A. Biolchini, A. Selicorni

2016/1 — pag. 27-33

The diagnosis of a genetic syndrome is very important in the life of a child and of their family for various reasons. Thus, paediatricians should be alert because the possible starting manifestations of a syndrome are really very different and vari...

Un lattante ipotonico con scarsa crescita e dermatite

S. Scattolin, R. Meneghetti, G. Policicchio

2013/6 — pag. 389-391

"Mi lasci senza fiato!"

S. Venezia, S. Osmi

2013/2

Tante visite, una diagnosi “by proxy”: ALPS, la sindrome linfoproliferativa autoimmune

L. Sirianni, M. Mancuso

2013/1

Autoimmune lymphoproliferative syndrome or ALPS is a genetic disease associated with anomalous apoptosis in lymphocytes, lymphoproliferation and autoimmune manifestations. Generally, it is possible to observe severe lymphadenopathy, hepatosplenomegal...

Guida pratica per il bambino con sindrome di Prader-Willi

G. Tornese, S. Pastore, G. Tonini

2012/3

Although Prader-Willi syndrome is a rare disease, it provides an excellent example of how early diagnosis and meticulous management can significantly improve long-term prognosis of some genetic diseases. These guidelines, particularly addressed to fa...

Il neonato "variamente" grosso

E. Piro, G. Corsello

2009/7 — pag. 441-447

Neonatal macrosomia is a risk factor for morbidity in the mother and the newborn. The main cause is maternal diabetes that, if present in the stages of embryonic development, may be associated with malformations. Neonatal macrosomia may occur also ...

Ali di farfalla

E. Rizzello, A. Taddio, F. Poropat

2009/4

Una plica cutanea sospetta... il primo passo verso la diagnosi di sindrome di Klippel-Trenaunay

S. Esposito, P. Ercolini, T. Montini, G. Rasca

2009/2