Abnormalities, Multiple

La sindrome Coffin-Siris (CSS)

Prada E, Mariani M, Scarano G, Selicorni A.

2025/8 — pag. 525-527 — DOI

La sindrome cardio-facio-cutanea

Scupilliti S, Selicorni A

2024/9 — pag. 589-591 — DOI

La sindrome di Zellweger: un lavoro di squadra

Acquaviva I, Cesaroni E, Siliquini S, Sessa F, Marini C

2021/8 — pag. 233-240 — DOI

A 1-month female infant with hypotonia, feeding difficulties, facial dysmorphic signs, hepatomegaly and seizures was admitted to the neonatal intensive care unit. Brain magnetic resonance revealed regions of cortical dysplasia, diffuse polymicrogyria...

Un neonato a termine ipotonico: pensa anche alla sindrome di Prader-Willi

M.C. Bariola, E. Vaccina, L. Lugli, A. Berardi, L. Lucaccioni, L. Iughetti, F. Ferrari

2019/1 — pag. 5-9

The paper describes the case of a term newborn infant, born by elective caesarean section with no prenatal and perinatal risk factors. He presented with an unexpected cardiorespiratory depression at birth, severe hypotonia, feeding problems and pecul...

La sindrome di Pallister-Killian

L. Bettini, S. Tajè, A. Selicorni

2017/10 — pag. 657-658

La sindrome Kabuki

P. Cianci, L. Bettini, A. Selicorni

2017/2 — pag. 113-114

Epilessia farmacoresistente e sindrome malformativa complessa? Diamole una scossa!

C. Barboni, D. Grioni, S. Maitz, A. Selicorni

2016/3

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...

Quando si dice… non vedere al di là del proprio naso!!!

L. Marangio, G. La Fauci, E. Valletta

2014/6

La sindrome di Alagille

S. Nastasio, M. Sciveres, S. Ghione, G. Marsalli, F. Cirillo, S. Riva, G. Maggiore

2013/10 — pag. 635-642

Alagille syndrome (ALGS, OMIM 118450) is a multisystem disorder due to defects in components of the Notch signalling pathway. Its main clinical and pathological features are chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral ...

Cosa deve sapere il pediatra delle sindromi

A. Selicorni

2013/2 — pag. 114-115

Sindrome di poland

2011/8 — pag. 532-533

Quando il bambino non fissa lo sguardo

E. Rubinato, F. Parentin, G. Gortani, M. Spaccini

2010/6 — pag. 397-398

We report the case of a 2-month-old baby who was brought to our attention because his mother noted that he “doesn’t gaze” as his sister did. The child presented with absence of gazing movement and nistagmus. An ophtalmological evaluation revealed...

Dumping syndrome: chi è costei?

E. Miorin, F. Colonna

2004/9

Agenesia polmonare e sindrome di Goldenhar

A. Costantini

2000/8

Sindrome acrocallosa in neonato (il contributo diagnostico dell'ecografia)

M. Budetta, I. Andreozzi

2000/1