Dwarfism

Il bambino con il naso a becco di uccello

Gauci MC, Portale G, di Cataldo G, Leone G, Gambilonghi F, di Nora A, Caruso M

2026/1 — pag. 24-26 — DOI

This report describes the case of an 8-year-old boy presenting with short stature and distinctive facial features, including microphthalmia, a “beak-shaped” nose and mandibular hypoplasia. A clinical diagnosis of Hallermann-Streiff Syndrome (HSS), ch...

Bassa statura, disarmonia staturale e deficit del gene SHOX Telarca altalenante e ipoplasia mammaria.

2025/5 — pag. 331 — DOI

La sindrome di Léri-Weill o discondrosteosi

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

2024/10 — pag. 653-655 — DOI

Bassa statura non sindromica e ritardo puberale: non solo ritardo costituzionale di crescita e pubertà

Campanile C, Improda N, Incoronato S, Ferrara A, Gentile G, Colantuoni M, Mandato C, Licenziati MR.

2024/9 — pag. 597-600 — DOI

A 14-year-old boy with suspected constitutional delay of growth and puberty (CDGP) presented with short stature, absence of secondary sex characteristics, bone age delayed by one year and family history of CDGP in his mother. The external genitalia w...

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....

Endocrinologia e diabete

Chiarelli F, Faleschini E, Tornese G

2021/26 — pag. 4 — 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...

Sindrome di Weill-Marchesani

F. Baldo

2020/1 — pag. 45-47

Corto come il papà

G. Tornese

2019/7 — pag. 431-437

Familial short stature is the second cause of short stature immediately after constitutional delay of growth and puberty. So far, in case of familiarity for short stature, regular growth velocity, bone age compatible with chronological age, the ind...

Piccola, ma non abbastanza

A. Lavagetto, S. Vignola, P. Gianiorio, G. Ottonello

2019/1 — pag. 47-48

Quando l’intestino infiammato... è infetto! Storia di una bambina distrofica

C. Barboni, A. Sonzogni, M. Ruggeri

2018/5

Eclatante bassa statura: quando l’ovvio passa inosservato

L. Sessa, E. De Nitto

2018/1

Il deficit del gene SHOX come causa di bassa statura

L. Iughetti, S. Bernasconi, E. Caruso-Nicoletti, F. Chiarelli, A. Cicognani

2011/6 — pag. 367-373

SHOX gene (Short Stature Homeobox-containing gene) seems to play an important role in the growth process. Indeed, patients with mutations or deletions of this gene present with variable degrees of stature deficiency that in the most serious cases i...

Deformità di Madelung

2010/5 — pag. 325-326

La storia di Tina

M. Lazzerini

2003/7

Sindrome di Dubowitz con reflusso vescico-ureterale e agenesia renale. Confronto con le sindromi da instabilità cromosomica

A. Borrelli, R. Festa

2000/9