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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Limb Deformities, Congenital

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Musculoskeletal Abnormalities Limb Deformities, Congenital

8 articoli — 2012-2024

RI Se la conosci la riconosci
La sindrome di Léri-Weill o discondrosteosi

Atzeri F, Scupilliti S, Scarano G, Selicorni A.

2024/10 — pag. 653-655 — DOI

RI Se la conosci la riconosci
Lo spettro della sindrome Cornelia de Lange

Prada E, Mariani M, Selicorni A.

2023/3 — pag. 183-185 — DOI

RI Neonatologia
Quando l’amnios si rompe troppo presto e… da solo

Serra G, Antona V, Corsello A, Li Pomi F, La Bianca MR, Corsello G.

2022/6 — pag. 387-389 — DOI

Rupture of the amniochorionic membranes is a recognized risk factor in the second and third trimester for chorioamnionitis, sepsis and preterm delivery. The isolated rupture of amnion is conversely responsible for a malformation spectrum known as ear...

RI Casi indimenticabili
Una mano da SHOX

Bossini B, Pellegrin MC

2021/8 — pag. 525-526 — DOI

A gene SHOX haploinsufficiency was diagnosed in a 13-year-old girl with short stature. Madelung deformity was absent but some dysmorphism of the fingers and toes were present....

RI Problemi speciali
Bassa statura da deficit di gene SHOX: vecchi e nuovi concetti

M.C. Pellegrin, S. Andrade, E. Faleschini, E. Barbi, C. Bizzarri, G. Tornese

2019/7 — pag. 438-444

At the moment alterations of SHOX gene, located in the pseudoautosomal region of sex chromosomes, are considered the most frequent genetic defects associated with short stature. Pathogenic mutations leading to SHOX deficiency involve not just exons...

RI Problemi speciali
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...

RI Pediatria flash
Le anomalie congenite delle dita

2016/4 — pag. 244-246

RI Pediatria flash
La sindrome di Cornelia de Lange

2012/1 — pag. 58-59

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