Problemi speciali
La sindrome del “Cri du chat”: qualche novità per una “vecchia” sindrome
“Cri du chat” syndrome: some novelties for an “old” syndrome
Marianna Spunton1, Maria Elena Liverani2, Paola Cerruti Mainardi3, Simona Cavani4, Michela Malacarne4, Chiara Baldo4, Mauro Pierluigi4, Andrea Guala1
1SOC di Pediatria, Ospedale Castelli, Verbania; 2SOC di Pediatria, Ospedale S. Andrea, Roma
3SOC di Pediatria, Ospedale S. Andrea, Vercelli; 4Laboratorio di Genetica Umana, Ospedale Galliera, Genova
Maggio 2015 - pagg. 306 -312
Abstract
“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” deletion). The
span and the position of the deletion correlate with the phenotype. To date, at least 2
genes, which seem to be involved in neurological development (semaphorine F and !-
catenin), have been mapped in the critical region. At birth, CdC children show low birthweight,
microcephalia, high-pitched cry, epicanthus, downslanted palpebral fissures,
round face with full cheeks, low set ears, and flat nasal bridge. Diagnosis can be easy if
all the clinical signs are present, but delayed in children with atypical features. Clinical
features change with age: coarse face, microcrania, prominent supraorbital ridges, malocclusion,
flat feet, and scoliosis. Intellectual disability is influenced by genetic and environmental
factors and a continuous and personalized rehabilitation programme is needed
to prevent regression. Behavioural problems (hyperactivity, tantrum, self harm, and
repetitive movements) are often present; reduced sensitivity to pain could be a possible
explanation. In the last 30 years data from about 300 patients have been collected in
Italy, thanks to the cooperation with ABC (Associazione Bambini Cri du Chat). The present
work reports auxologic and developmental charts and tries to increase knowledge in
order to suggest the best follow up and rehabilitation programmes.
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Corrispondenza: andrea.guala@aslvco.it