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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Genetic mutation

5 articoli — 2002-2025

RI Casi indimenticabili
Bassa statura: tutta colpa del papà

Tornese G.

2025/9 — pag. 598-600 — DOI

A child with slow growth and normal hormonal tests shows distinctive physical features. Clinical exome sequencing reveals a mutation in the IHH gene, inherited from the father, who had initially been overlooked. The child responds very well to growth...

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 Aggiornamento
Rachitismo vitamina D-resistente: dalla clinica alla genetica, “andata e ritorno”

G.I. Baroncelli, B. Toschi, L. Cinquanta, P. Manfredi, A. Rossodivita, A. Michelucci, F. Baldinotti, S. Bertelloni

2013/2 — pag. 89-99

The term “vitamin D-resistant rickets” was used to describe a clinical condition which was indistinguishable from the common rickets except that the signs occurred in spite of adequate vitamin D treatment. Recent studies showed that vitamin D-resis...

RI Pagine elettroniche ; Caso Contributivo
Eteroplasia ossificante progressiva: una nuova mutazione del gene GNAS1 e rassegna della letteratura

S. Mattia, G. Mantovani, N. Guaraldi, R. Pagano, A. Venuta, P. Ferrari

2008/3 — pag. 193-194

Progressive osseous heteroplasia (PHO) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and by progressive heterotopic ossification of cutaneous, subcutaneous and deep con...

RI Pagine elettroniche
Accesso libero
La malattia di Takayasu: rara, ma da non dimenticare

TAKAYASU’S DISEASE: A RARE DISEASE, NOT TO BE FORGOTTEN

2002/2 — pag. 123-124

Report of two cases of Takayasu’s disease: in the first one, the disease affected a young male patient being treated for Crohn’s disease, whereas in the second one, it affected a girl. The disease was easily diagnosed owing to the presence of a pa...

Argomenti correlati
Gastroesophageal Reflux (113) Crohn Disease (95) Crohn's disease (75) Growth Disorders (73) Reflusso gastroesofageo (72) Child (71) Intellectual Disability (67) Mutation (63) Congenital abnormalities (63) Vitamin D (58) Early Diagnosis (50) Malattia di Crohn (45) Human Growth Hormone (34) Vitamina D (34) Growth hormone (29) Diagnosi precoce (25) Short stature (24) Pediatric Care (21) Malformazioni congenite (21) Developmental delay (20)