Genes

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...

Bassa statura, disarmonia staturale e deficit del gene SHOX Telarca altalenante e ipoplasia mammaria.

2025/5 — pag. 331 — DOI

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...

Bassa statura non sindromica e ritardo puberale: non solo ritardo costituzionale di crescita e pubertà

Campanile C, Improda N, Incoronato S, Ferrara A, Gentile G, Colantuoni M, Mandato C, Licenziati MR.

2024/9 — pag. 597-600 — DOI

A 14-year-old boy with suspected constitutional delay of growth and puberty (CDGP) presented with short stature, absence of secondary sex characteristics, bone age delayed by one year and family history of CDGP in his mother. The external genitalia w...

Bassa statura non sindromica e ritardo puberale: non solo ritardo costituzionale di crescita e pubertà

Campanile C, Improda N, Incoronato S, Ferrara A, Gentile G, Colantuoni M, Mandato C, Licenziati MR

2024/9 — pag. 171-174 — DOI

A 14-year-old boy with suspected constitutional delay of growth and puberty (CDGP) presented with short stature, absence of secondary sex characteristics, bone age delayed by one year and family history of CDGP in his mother. The external genitalia w...

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....

Foramina parietalia permagna: descrizione di un caso clinico e revisione della letteratura

Mazzoni S, Guidi B, Tavani F

2021/2 — pag. 51-54 — DOI

The purpose of the present work is to expose the defects of parietal bone ossification and to identify the criteria for differential diagnosis and brain changes related to the condition, with particular attention to the venous developmental anomalies...

Displasia ossea con scarsa crescita

A. Trombetta

2020/10 — pag. 257-258 — DOI

A case of a short girl affected by multiple familial osteochondrosis (MFO) is described. The Author underlines the need of a strict, long term clinical monitoring in all MFO children and in their affected parents because of a significantly increased ...

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 ...

Bassa statura da deficit di gene SHOX: vecchi e nuovi concetti

M.C. Pellegrin, S. Andrade, E. Faleschini, E. Barbi, C. Bizzarri, G. Tornese

2019/7 — pag. 438-444

At the moment alterations of SHOX gene, located in the pseudoautosomal region of sex chromosomes, are considered the most frequent genetic defects associated with short stature. Pathogenic mutations leading to SHOX deficiency involve not just exons...

La sindrome del carcinoma nevoide a cellule basali o sindrome di Gorlin-Goltz

A. Agrusti

2018/3 — pag. 184-185

Storia di nei che parlavano di intestino

I. Festa, R. Caiazzo, S. Napodano, C. Coppola, L. Sessa, E. De Nitto, P. Marzuillo, C. Strisciuglio, L. Perrone

2017/5

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

Il retinoblastoma

A. D’Ambrosio, G. Coriolani, M. Caini, D. Galimberti, S. Giomi, S. Badii, S. Moretti, M.S. Toti, F. Coccina, F. Carra, T. Hadjistilianou

2013/4 — pag. 227-236

Retinoblastoma is the most frequently diagnosed intraocular malignancy in infants. Recently, there have been significant advances in the management of this disease. New therapeutic strategies, such as superselective intra-arterial chemotherapy and ...

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...

Questione di... tuberi

L. Matarazzo

2012/7

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...

Il deficit del gene SHOX come causa di bassa statura

L. Iughetti, S. Bernasconi, E. Caruso-Nicoletti, F. Chiarelli, A. Cicognani

2011/6 — pag. 367-373

SHOX gene (Short Stature Homeobox-containing gene) seems to play an important role in the growth process. Indeed, patients with mutations or deletions of this gene present with variable degrees of stature deficiency that in the most serious cases i...

Deformità di Madelung

2010/5 — pag. 325-326

Oncologia pediatrica: le tappe della diagnosi

P. Paolucci, I. Mariotti, E. Bigi, et al.

2009/2 — pag. 85-93

The objective of cure for more than 70% of children with cancer outlines the successful routes built up by paediatric oncologists over the latest 40 years. This successful story stands for the development and evolution of the diagnostic routes wher...

Neurofibromatosi tipo I (parte prima)

G. Bartolozzi

2009/2

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...

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...

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

Il sistema immune (Parte quinta)

G. Bartolozzi

2001/2

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...