Inheritance Patterns

Bassa statura: tutta colpa del papà

Tornese G.

2025/9 — pag. 598-600 — DOI

A child with slow growth and normal hormonal tests shows distinctive physical features. Clinical exome sequencing reveals a mutation in the IHH gene, inherited from the father, who had initially been overlooked. The child responds very well to growth...

Ematuria e non solo... a volte è questione di famiglia: la sindrome di Alport

Sarno E, Alberici I, La Scola C, Pillon R, Pasini A.

2025/3 — pag. 186-190 — DOI

The paper reports the case of a 4-year-old girl with recurrent episodes of macrohematuria. Her family history revealed renal and ocular anomalies. Clinical and genetic analyses confirmed X-linked compound heterozygosity for Alport syndrome, with two ...

Quando la pelle racconta: dalle vescicole al gene NEMO

Marrazzo M.

2025/2 — pag. 43-44 — DOI

The paper presents the case of a 7-day-old newborn, born at term, with widespread cutaneous lesions on their limbs and trunk, sparing their face, palms and soles. The lesions, initially vesicular, evolved into crusts and hyperkeratosis, following Bla...

Ogni età ha la sua macroematuria

Delcaro G, Pennesi M.

2022/9 — pag. 598-600 — DOI

A girl with gross haematuria was finally diagnosed with X-linked Alport syndrome that was initially diagnosed as Berger syndrome. The clinical implication of X-linked Alport syndrome is discussed....

Ereditieri sfortunati: il rene policistico

G.C. Calligari


2020/8 — pag. 212-213 — DOI

Rachitismo ipofosforemico X-linked

L. Lucchetti, D. Fintini, M. Cappa, F. Emma

2020/7 — pag. 430-436 — DOI

X-linked hypophosphatemia (XLH) is an X-linked disorder with dominant penetration, caused by mutations in the PHEX gene, which encodes for an endopeptidase that is predominantly expressed in osteoblasts, osteocytes and odontoblasts. PHEX mutations ...

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...

Il gene del G6PD, le varianti cliniche e... la minestrina della nonna

M.L. Tortorella, F. Colonna, L. Fanti

2016/8 — pag. 526-528

Ma che gambe...!

F. Santoro

2014/8 — pag. 531-532

La sindrome di Alagille

S. Nastasio, M. Sciveres, S. Ghione, G. Marsalli, F. Cirillo, S. Riva, G. Maggiore

2013/10 — pag. 635-642

Alagille syndrome (ALGS, OMIM 118450) is a multisystem disorder due to defects in components of the Notch signalling pathway. Its main clinical and pathological features are chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral ...

Un bambino Fragile

A. Baio

2013/9 — pag. 595-596

Malattia di Wilson: dieci motivi per (ri)parlarne ai pediatri

R. Iorio, G. Ranucci, D. Liccardo, M.G. Puoti, F. Di Dato

2012/8 — pag. 501-507

Wilson disease (WD) is an inherited autosomal recessive disorder of copper metabolism characterized by progressive copper accumulation in the liver and then in other organs, such as the nervous system, eyes and kidneys. In childhood, clinical prese...

Genetica del QI

2011/8 — pag. 526-528

Il ritardo mentale: cause, genetica, intervento

F. Panizon

2011/8 — pag. 520-525

Mental retardation (MR) consists of: a) a defect of IQ higher than 2 SD (...

Una speciale anemia sideropenica

M. Davitto, G. Ansal, A. Monno, E. Giglione, C. Maria Maddalena Fiorito, A. Conconi, P. Delbini, V. Vaja, A. Franzil

2011/8

Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder characterized by: congenital hypochromic, microcytic anemia, very low mean corpuscular erythrocyte volume, low transferring saturation, poor response to oral iron suppl...

Piastrinopenia isolata x-linked da mutazione missense del gene WASP: descrizione di un caso

C Locatelli, C Malaventura, R Ciambra, M Pocecco, L. D Notarangelo, L. D Notarangelo

2004/7

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...

La genetica dell’autismo

2004/6 — pag. 394

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...

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

C. Alfano, G. Falso, F. Nunziata

2003/2

Febbre periodica ereditaria (Parte seconda)

G. Bartolozzi

2002/2

Sindrome di Shwachman-Diamond: uno studio collaborativo

L. Giglio, P. Petaros, E. Neri, et al.

2002/2 — pag. 85-89

Shwachman-Diamond (SD) syndrome is a genetic disease inherited as an autosomal-recessive character, with quite variable clinical expression, course and prognosis. The mechanisms of the disease are still not well understood, but effective symptomati...

Incontinentia Pigmenti

S. Marinoni, T. Bardaro

2001/10

La sindrome dell’X fragile: recenti acquisizioni e prospettive future

S. Vatta, E. Bevilacqua, A. Belgrano, M. Morgutti, A. Amoroso

2000/8 — pag. 522-525

Ittiosi lamellare congenita

M. Chirico, M.C. Albarelli, L. Pavanello

1999/9

Le β-talassemie

1999/8

Febbre familiare mediterranea: descrizione di un caso clinico

F. Sellitto, E. Varricchio

1997/4 — pag. 241-244

Mediterranean fever is a rare genetic disorder characterized by recurrent fever, poliserositis, abdominal pain and marked alteration of inflammatory serum indexes. The Authors describe a case with a long story of recurrent fever and abdominal p...