Cri du chat
Surveillance and management of most clinical problems are largely dependent on self-reporting complaint and discomfort, and Cd C cognitive impairment may hamper the possibility of reporting clinical symptoms possibly related to cancer, thus causing an even severe delay in diagnosis and treatment.
We collected data as to the presence of neoplasia in our cohort of cases and we identified four cases in whom neoplasia was diagnosed and a fifth patient who developed a cholesteatoma (Table 1).
A breast cancer diagnosis was done when the patient was 31 and she died the same year.
A recent analysis of age distribution (January 2017) on the Italian and German Databases for Cri du Chat syndrome is reported in Figure 1.
Among the 321 cases, the observed male to female ratio is 0.83; as far as age is concerned, 60 out of 321 (18.7%) are over 40 years and 3 out of 321 (0.9%) are older than 60 years; the oldest patient is now 74 years old.
Cholesteatoma is a rare keratinizing stratified squamous epithelium found ectopically in the middle ear, an area characterized by low cuboidal epithelium.
It is usually interpreted as a benign condition, but it requires surgical treatment to protect patients from severe complications as temporal bone resorption; some data still support the idea of being a neoplasm, based on the presence of molecular markers of tumor progression .