Genetic disease

Sindrome di Waardenburg: descrizione di un caso clinico

V. Carrato, A. Spinelli, I. Bruno

2017/5 — pag. 323-324

Waardenburg syndrome - type 1 (WS1) is an autosomal dominant disease clinically and genetically heterogeneous. It is characterized by non-progressive sensorineural hearing loss of variable degree and anomalous pigmentation of the eyes and the skin ca...

Sindrome di Waardenburg - Descrizione di un caso clinico

V. Carrato, A. Spinelli, I. Bruno

2017/5

Waardenburg syndrome - type 1 (WS1) is an autosomal dominant disease clinically and genetically heterogeneous. It is characterized by non-progressive sensorineural hearing loss of variable degree and anomalous pigmentation of the eyes and the skin ca...

Sindrome di Noonan, associata a celiachiae a cardiomiopatia

A. Borrelli, A. Correra, D. Ummarino, M. Ummarino

2009/1 — pag. 55-56

A 4-year-old girl has been hospitalized with abdominal pain and weight and height loss. The patient presented with dysmorphic features and an unusual congenital cardiopathy that had been diagnosed with Noonan syndrome. Lab tests, which were posit...

Ipertrofia clitoridea in bambina affetta da neurofibromatosi di tipo 1

E. Ballerini, R. Luksch

2006/9 — pag. 601-602

We report the case of NF1 in a 21 month old female, who presented with hypertrophy of the clitoris. The work-up evaluations revealed the presence of multiple pelvic and abdominal neurofibromas and concomitant histologically assessed presacral ganglio...

Un caso di sindrome di Alagille

A. Borrelli, Mt. Carbone, A. Correra

2005/6 — pag. 398-398

Piastrinopenia isolata X-linked da mutazione del gene WASP

2004/7 — pag. 450-450

Wiskott-Aldrich (WAS) and X-linked thrombocytopenia (XLT) are two disorders caused by different mutations of the gene WASP. WAS is characterized by recurrent infections, eczema, thrombocytopenia with low mean platet volume (MPV) and increased sus...

Che strani capelli ha quel bambino?

2004/5 — pag. 326-326

The Authors described a case of a newborn affected by Menkes disease (MNK) with convulsions, connective tissue disorders and hair abnormalities. MNK is an X-linked recessive disorder characterised by a copper-transporting ATPase defect. Subcutaneo...

Anemia di Fanconi con fenotipo normale

2003/4 — pag. 258

Fanconi anemia is a rare disease, with normal phenotype in a third of the cases. It is characterized by aplastic anemia/pancytopenia, macrocytosis and chromosomal abnormality, which is responsible of the high risk of cancer...