bassa statura

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...

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...

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. 171-174 — 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...

Piccola piccola e con la tiroidite

Elefante P.

2023/6 — pag. 397 — DOI

The diagnosis of Turner syndrome was eventually made in an 11-year-old girl presenting with Hashimoto thyroiditis and short stature....

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...

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...

Piccola, ma non abbastanza

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

2019/1 — pag. 47-48

Eclatante bassa statura: quando l’ovvio passa inosservato

L. Sessa, E. De Nitto

2018/1

Corea di sydenham“Piccoli per età gestazionale” e ormone della crescita

2015/2 — pag. 122

Pubarca precoce, irsutismo, amenorrea e bassa statura: quale diagnosi?

A. Zucchini, F. Marchetti

2013/1 — pag. 35-38

Non-classical congenital adrenal hyperplasia (NCCAH) is an autosomal recessive disease that appears during childhood with hyperandrogenic symptoms. The article reports a case of NCCAH due to 21-hydroxylase deficiency in a 14-year-old girl with prem...

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...

Testing: alla ricerca dei celiaci ignoti

M. Narducci, L. Mauri, L. Castelli, et al.

2000/7 — pag. 463-464

According to literature, we identified 32 coeliac disease-related conditions which can be divided into the following categories: symptoms, signs, pathologies, instrumental and laboratory tests, familiarity. During one year, 34 paediatricians in Mi...