Developmental delay

La sindrome di Koolen-De Vries

Bergo E, Selicorni A.

2026/3 — pag. 179-181 — DOI

La sindrome di Malan

Ramazzotti S, Nuvoli V, Baldo F.

2026/2 — pag. 114-117 — DOI

La sindrome Coffin-Siris (CSS)

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

2025/8 — pag. 525-527 — DOI

Sindrome di Bardet-Biedel

Scupilliti S, Selicorni A.

2025/1 — pag. 43-45 — DOI

La sindrome di Sotos

Scupilliti S, Selicorni A.

2024/2 — pag. 113-115 — DOI

Lo spettro della sindrome Cornelia de Lange

Prada E, Mariani M, Selicorni A.

2023/3 — pag. 183-185 — DOI

Sindrome dell’X fragile

Carrer A, Mariani M, Selicorni A.

2023/2 — pag. 119-120 — DOI

Macrotrombocitopenia, dismorfismi facciali e ritardo dello sviluppo psicomotorio: alla scoperta del gene CDC42

Fabbri E, Giardinelli S, Filippini B, Gasperini P, Mazzocco M, Radice C, Marchetti F, Pericoli R

2022/9 — pag. 181-186 — DOI

Cell Division Control 42 (CDC42) gene encodes for a small GTPase with a fundamental role in controlling intracellular signaling pathway. Gene mutations can cause different phenotypic manifestations, which reflect the variety of the role of this media...

L’omocistinuria classica in età pediatrica

Ravaglia A, Costagliola G, Spada M

2021/10 — pag. 309-313 — DOI

Classical homocystinuria is an inborn error of methionin metabolism. It is characterized by an accumulation of homocysteine, due to a deficiency of the enzyme involved in its metabolism, namely cystathionine beta synthase. If not treated, the increas...

Un bambino che non mangia… e non sta seduto

Trippella G, Iacopelli J

2021/5 — pag. 157-157 — DOI

The Authors describe the case of an 11-month-old infant with severe vitamin B12 deficiency consequent to a strict vegan diet followed by the mother during pregnancy and to a strictly vegan weaning. The child presented with food refusal, somatic growt...

Alla conquista della sindrome di West

S. Rosati, S. Di Marco, M. Valiani, A. Bonuccelli, D. Peroni

2020/10 — pag. 260-260 — DOI

The paper presents the cases of two infants affected by the so-called West syndrome. Despite a classical clinical presentation in one of the two cases, the diagnosis was delayed because of a previous erroneous diagnosis of gastroesophageal reflux dis...

Sindrome di Mowat-Wilson

P. Cianci, S. Tajè, A. Selicorni

2019/2 — pag. 119-121

La sindrome di Cornelia de Lange

V. Decimi, A. Cereda, M. Mariani, L. Bettini, A. Selicorni

2016/6 — pag. 373-380

Which are the distinctive features of Cornelia de Lange syndrome? When should it be suspected? Which of these features are of interest for a paediatrician who assists a young patient with this syndrome? Which tools can the paediatrician use in orde...

Non sempre l’appetito è indice di “benessere”

C. Cubaiu, G. Masia

2013/7

Guida pratica per il bambino con sindrome di Prader-Willi

G. Tornese, S. Pastore, G. Tonini

2012/3 — pag. 195-196

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 t...

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...

La sindrome di Cornelia de Lange

2012/1 — pag. 58-59

Marco

R. Salvadori

2000/7 — pag. 460-462

Cisti aracnoidea associata a nevo di Becker

C. De Meco, M. Crisetti, M. Germano, Mi. Jussi, P. Paolucci

1999/8

La sindrome cfc: un caso con piastrinopenia

A. Borrelli, G. Pinto

1999/3 — pag. 149