neonatal diagnosis

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...

Diagnosi di malattia di Pompe nel neonato

C. Amador, M. Sacchini, E. Agostini, E. Procopio, E. Laudani, P. Fiorini

2014/6 — pag. 397-399

Pompe disease is an autosomal recessive storage disorder caused by a deficiency in the enzyme α-glucosidase, resulting in intralysosomal glycogen accumulation in skeletal and cardiac muscle. The classic infantile form is characterized by progres...

Diagnosi neonatale di discinesia cliare primitiva: descrizione di un caso

E. Palumbo, G. Nasca, C. Malorgio, M. Branchi, G. Pellegrini

2008/2

Diagnosi neonatale di discinesia ciliare

E. Palumbo, G. Nasca, C. Malorgio, M. Branchi, G. Pellegrini

2008/2 — pag. 123-124

Primary ciliary dyskinesia is a rare, autosomal recessive genetic disease resulting from an abnormal ultra structural morphology of cilia. Such disease is rarely recognized in neonatal period. Recently, unexplained neonatal respiratory distress has b...