microcefalia

Sindrome ATR-X

Scupilliti S, Selicorni A.

2025/3 — pag. 177-179 — DOI

La diagnosi di craniostenosi: alcune riflessioni per il pediatra

Genitori L, Massimetti M, Scagnet M.

2022/6 — pag. 365-370 — DOI

Microcephaly is a medical condition involving a smaller-than-normal head. Microcephaly may present at birth or it may develop in the first few years of life. Patients with this disorder often have an intellectual disability, poor motor function, poor...

Sindrome di Mowat-Wilson

P. Cianci, S. Tajè, A. Selicorni

2019/2 — pag. 119-121

Sindrome di Angelman

L. Bettini, P. Cianci, A. Selicorni

2018/10 — pag. 655-657

Il virus Zyka è davvero la causa dell’epidemia di microcefalia congenita?

M.P. Ronchetti, F. Ronchetti, P.M. Bianco, R. Ronchetti

2018/1

Over a 12-month-period from July 2015 to June 2016, in Brazil thousands of cases of congenital microcephaly ap-peared simultaneously with the spread of an epidemic of Zyka virus infections. In the early 2016, this temporal co-incidence was basically ...

Un allarme lava l’altro

2016/2 — pag. 83

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...

La sindrome di Cornelia de Lange

2012/1 — pag. 58-59

Teste piccole, teste grandi, teste storte

L. Genitori, F. Giordano, F. Mussa, M. Sanzo, L. Sardo, G. Di Pietro, P. Donati

2007/3 — pag. 155-159

The right and early diagnosis of craniosynostosis is a mainstay in their surgical management. The Pediatrician often makes the first medical examination of a child with a suspected craniofacial malformation. The aim of this paper is describing the f...

Un bambino con tetraparesi spastica che non cresce: una storia in tre tempi

F. Marchetti, et al.

2004/8 — pag. 505-507

L'infezione da citomegalovirus (Parte seconda)

G. Bartolozzi

2002/8

Sindrome di dubowitz con reflusso vescico-ureterale e agenesia renale. confronto con le sindromi da instabilità cromosomica

A. Borrelli, R. Festa

2000/9 — pag. 599-600

Description of a Dubowitz’ syndrome case (shortness of stature, microcephaly, superactivity, slight mental retardation, peculiar facies, thin hair, lid drop) associated with renal agenesis and vesicoureteral reflux. The case is compared to other g...

Fenilchetonuria materna

G. Nassimbeni

1997/4 — pag. 251-253