Genetic Structures

Sapere riconoscere la discheratosi congenita

Ballaben A.

2026/1 — pag. 54-56 — DOI

Ginevra was examined at age 14 for neurological and inflammatory symptoms (paresthesia, muscle weakness and xerostomia). The clinical picture remained unclear until the discovery of severe onychodystrophy, which had been hidden for years by nail p...

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...

Fidarsi o non fidarsi del test prenatale non invasivo. Riflessioni a partire da un caso di falso negativo

Neirotti A, Bombaci S, Rubino C

2024/9 — pag. 183-186 — DOI

Non-invasive prenatal testing (NIPT) is a screening for foetal chromosomal abnormalities that identifies at-risk pregnancies and is used to propose a possible invasive genetic confirmation testing in case of its positive results. For Down syndrome (t...

La sindrome di Silver-Russel

Prada E, Scupilliti S, Selicorni A.

2024/8 — pag. 515-517 — DOI

Sindrome dell’X fragile

Carrer A, Mariani M, Selicorni A.

2023/2 — pag. 119-120 — DOI

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....

Quando il disturbo del neurosviluppo ha un substrato genetico: un caso di sindrome di Kleefstra

Sorasio L, Franceschi L, Pavinato L, Peduto A

2021/4 — pag. 114-117 — DOI

Neurodevelopmental disorders (ND) have an important prevalence in children; intellectual disability in particular occurs in a heterogeneous group of genetic conditions. The evolution of molecular cytogenetic techniques and the recent advances in exom...

Infezione urinaria e cortisone: più sì che no Qualità dell’accudimento, molecole e (neuro)sviluppo del prematuro Linee guida: tra rigore e bisogno di verifica e aggiornamento Da salvatori a carnefici: il caso dei PPI e dell’asma Pericarditi ricorrenti Una FPIES blu

2021/3 — pag. 147-148 — DOI

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 ...

Le “basi” (genetiche) dell’obesità

F. Angrisani, M.R. Arienzo

2019/9 — pag. 230-230

La sindrome di Beckwith-Wiedemann

A. De Paoli, A. Di Francesco, A. Selicorni

2019/8 — pag. 509-517

Beckwith-Wiedemann syndrome is a multisystemic disease mostly caused by genomic imprinting pattern anomalies of the 11p15.5 region. BWS is characterised by a very wide clinical spectrum starting from the more classical form (overgrowth, macroglossia,...

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

La sindrome di Pallister-Killian

L. Bettini, S. Tajè, A. Selicorni

2017/10 — pag. 657-658

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

La sindrome del “Cri du chat”: qualche novità per una “vecchia” sindrome

M. Spunton, M.E. Liverani, P. Cerruti Mainardi, S. Cavani, M. Malacarne, C. Baldo, M. Pierluigi, A. Guala

2015/5 — pag. 306-312

“Cri du chat” syndrome (CdC, OMIM 123450) is classified among the rare diseases. It was described for the first time in 1963 and it is due to a deletion in the short arm of chromosome 5 (in about 90% of cases as a result of a sporadic “de novo” del...

Ipoglicemia neonatale, emipertrofia e macroglossia: quale diagnosi?

V. Graziani, M. Mainetti, A. Zucchini, M. Poli, A. Sensi, S. Russo, F. Marchetti

2015/1 — pag. 44-49

The paper describes the case of an infant with neonatal hypoglycaemia, hemihyperplasia, and macroglossia and the diagnostic process that leads to the confirmation of Beckwith- Wiedemann syndrome (BWS). BWS is an overgrowth disorder caused by epimut...

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 New England Journal of Medicine compie 200 anni. Duecento di questi giorni!

G. Tornese, F. Marchetti

2012/1

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...

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...

Una scomoda eredità…

A. Romei, R. De Tata, F. Massart, G. Federico, G. Saggese

2010/6

Deformità di Madelung

2010/5 — pag. 325-326

L'infanzia dovrebbe essere senza alcolScoperto l'interruttore dell'obesitàBevande energetiche per bambini ed adolescentiScreening del portatore, incidenza della fibrosi cistica e decisioni difficiliEffetto protettivo dell'allattamento al seno nel tasso di recidiva post-parto in madri con sclerosi multiplaLo sport contrasta l’invecchiamento: ora c'è la prova a livello cellulare«Ragazzi a letto alle dieci per vivere felici»Allergie: curare la pelle per prevenire quelle respiratorieFrutta bio a scuola. Stanziati i fondi per il progetto “Scuola e cibo”Fnomceo: siamo medici di tuttiScuola: dal 2011 tetto di presenze per gli alunni stranieri

a cura di Irene Bruno e Alessandra Perco

2010/1

Genetica ed epigenetica dell'obesità

F. Panizon

2009/7 — pag. 431-439

Obesity is, first of all, a matter of genetics and it better develops in conditions of more food availability and sedentary lives as it occurs in rich countries. The control of the energetic balance (intake > accumulation > dispersion) is connected...

Epigenetica: uno sguardo panoramico

2009/6 — pag. 388-390

Alopecia bitemporale e strie di iperpigmentazione in lattante con ritardo psicomotorio

G. Ciana, M.C. Fertz, C. Sanesi, S. Demarini, V. Petix, V. Pecile

2009/3 — pag. 189-190

The careful classification of a psychomotor delay in an infant is often a difficult task for paediatricians. Many hospital admissions for clinical, instrumental and laboratory investigations, are often needed, even though an exact diagnosis is no...

Alopecia bitemporale e strie di iperpigmentazione in lattante con ritardo psicomotorio

G. Ciana, M.C. Fertz, C. Sanesi, S. Demarini, V. Petix, V. Pecile

2009/3

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...

Dieci anni di pediatria: che cosa è cambiato nella genetica

G. Corsello

2006/6 — pag. 359-364

The recent developments of genetics allow a clearer diagnosis of most of the syndromes and diseases due to defects of the genetic code and of the chromosomal pattern. New techniques such as FISH (Fluorescent in Situ Hybridization) and CGH-microarrays...

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...

Un Duchenne astenico

D. Sambugaro

2003/8 — pag. 532-534

Domande e risposte

2003/7 — pag. 469

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

Vettori virali per il trasferimento di geni

G. Bartolozzi

2001/3

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...