Displasia scheletrica

La sindrome di Léri-Weill o discondrosteosi

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

2024/10 — pag. 653-655 — DOI

Sembra un deficit di GH, e invece non lo è!

Casini F, Magenes VC, Guida G, Lonoce L, Pozzi E, Cocuccio C, Arrigoni S, Zuccotti G

2024/7 — pag. 142-143 — DOI

A 2.5-year-old girl was evaluated for poor growth. Despite low IGF-1 levels, GH deficiency was excluded. Further investigation revealed celiac disease, diagnosed via EGDS. After starting a gluten-free diet, catch-up growth was observed. The patient r...

Acondroplasia

Calderara ML, Selicorni A.

2023/1 — pag. 49-51 — DOI

Una bambina piccola con le dita coniche

V. Carrato, A.G. Grasso

2019/7 — pag. 154-154

Cos'è la sindrome di Jeune e quando pensarciDescrizione di un caso clinico

B. Vergara, C. Muratori, L. Mambelli, A. Zucchini, R. Iannace, G. Parmeggiani, A. Sensi, F. Marchetti

2018/2 — pag. 119-122

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal dysplasia characterised by narrow chest, short skull and skeletal abnormalities, which include, among other things, a “trident” appearance of the...

Cos'è la sindrome di Jeune e quando pensarciDescrizione di un caso clinico

B. Vergara, C. Muratori, L. Mambelli, A. Zucchini, R. Iannace, G. Parmeggiani, A. Sensi, F. Marchetti

2018/2

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal dysplasia characterised by narrow chest, short skull and skeletal abnormalities, which include, among other things, a “trident” appearance of the ac...

Deformità di Madelung

2010/5 — pag. 325-326