Skeletal dysplasia

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...

Un varismo che fa rima con…

Zampieri A, Corona F, Magnolato A, Barbi E.

2024/6 — pag. 383-385 — DOI

The paper reports the case of a 1-year-old girl with evident genu varum, frontal bossing, anterior bowing of tibia and mother’s history of short stature treated in infancy with GH. Biochemical findings show increased alkaline phosphatase and hypophos...

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