rare disease

Occhio all’asimmetria toracica alla nascita... e se fosse la sindrome di Poland?

Di Caprio A, Bedetti L, Madeo SF, Lucaccioni L, Roversi F, Iughetti L, Berardi A

2021/6 — pag. 166-170 — DOI

Poland syndrome is a rare congenital disorder characterized by agenesis of the pectoralis major muscle. It is usually unilateral and right-sided and can be associated with several thoracic and upper limb defects. Early diagnosis and timely therapeuti...

Malattia di Castleman: chi è costei?

G. Paloni, C. Zanchi, J. Schleef, G. Zanazzo, F. Marchetti, A. Ventura

2012/7

Castleman's disease (CD) is a rare, localized or generalized, lymphoproliferative disorder with a frequent mediastinal location, but possible in any lymph node or extra nodal site. It usually appears in young adults whilst it rarely occurs in childho...

Eteroplasia ossificante progressiva: una nuova mutazione del gene GNAS1 e rassegna della letteratura

S. Mattia, G. Mantovani, N. Guaraldi, R. Pagano, A. Venuta, P. Ferrari

2008/3 — pag. 193-194

Progressive osseous heteroplasia (PHO) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and by progressive heterotopic ossification of cutaneous, subcutaneous and deep con...

Sintomi comuni per malattie rare Un approccio generale del pediatra ai pazienti con malattie rare

G. Tornese, V. Declich, G. Ciana, F. Marchetti, E. Barbi

2007/4 — pag. 230-236

As a rule many patients with rare diseases report their symptoms at first to a paediatrician or to a general practitioner. These are considered “specialists” in the cure of common problems, but also “common” patients and “common” symptoms can hide ...

Diagnosi di malattia di Rendu-Osler-Weber in bambina con cianosi e teleangectasie cutanee

P. Quarello, E. Parodi, D. Renga, L. Farinasso, P. Saracco

2006/9 — pag. 601-602

We report the case of an 9 years old child with cyanosis and clubbing. Her mother was affected by Hereditary Hemorrhagic Telangiectasia (HHT) with muco-cutaneous telangiectasias and epistaxis. Decreased level of oxygen in arterial blood was detected ...

La malattia di Anderson-Fabry in età pediatrica

V.I. Guerci, M.G. Pittis, G. Ciana, et al.

2003/5 — pag. 309

Fabry disease is an X-linked, recessive inborn error of glycosphingolipid metabolism resulting from deficient alpha-galactosidase A activity. The codifying gene has been mapped in position Xq22.1 and more than 150 mutations are known, most of them ...

Un caso di afibrinogenemia congenita

2003/2 — pag. 128-128

ase report of congenital afibrinogenemia with neonatal onset....