Genetic syndromes

Due libri, una Pediatria

2023/8 — pag. 487 — DOI

Decifrare la bassa statura nei bambini

Chiarelli F, Castorani V, Polidori N

2021/3 — pag. 159-166 — DOI

Short stature is the most common cause of referral to paediatricians. Only a minority of children with short stature have an underlying pathology. Although well-established diagnostic and management paradigms do exist, recent advances in molecular te...

L’ipoacusia: dalla diagnosi alla presa in carico

E. Orzan

2016/7 — pag. 458

Una diagnosi a tappe

M.C. Pellegrin, M. Mariani, S. Maitz, A. Selicorni

2016/1

Il pediatra e le sindromi nella pratica: dal dire al fare

S. Casagranda, C. Fossati, M. Taiana, F. Zanetto, L. Mauri, A. Biolchini, M.L. Rabbone, A. Selicorni

2015/3 — pag. 181-186

Background - Children with special health care needs are a new emerging category of patients in the landscape of the modern paediatrics. Discussion regarding the care of these children is very often related to the job of expert centres only. Howeve...

Dieci anni di pediatria: che cosa è cambiato nella genetica

G. Corsello

2006/6 — pag. 359-364

The recent developments of genetics allow a clearer diagnosis of most of the syndromes and diseases due to defects of the genetic code and of the chromosomal pattern. New techniques such as FISH (Fluorescent in Situ Hybridization) and CGH-microarrays...