[Registry of genetic and malformative diseases in the province of Macerata].
OBJECTIVE
The aim of this epidemiological research is to evaluate the prevalence of genetic diseases and malformative syndromes in paediatric population living in the Macerata county.


METHODS
All the data were collected through a careful analysis of a specific questionnaire sent to all the family paediatricians.


RESULTS
23,379 children living in Macerata county, aged 0 to 9 years, were evaluated (93.8% of all this paediatric population). Among those were found N 400 cases of genetic diseases and malformative syndromes: Malformations Tot.N. 255 cases (63.3% of the reported cases); Malformative Syndromes Tot. N. 55 cases (27.8% of the reported cases); Endocrinology and Metabolic Diseases Tot. N. 41 cases (10.3% of the reported cases); Osteochondrodysplasia Tot. N. 22 cases (5.7% of the reported cases); Other Tot. N. 28 cases (7.0% of the reported cases); Male population was found more affected than female: M/F ratio = 1.4. The analysis of the data showed an increasing trend in detecting these pathological conditions, consistent with the increase in geographic altitude (3 areas considered): 0-100 meter = 0.88%; 100-600 m.a.s. = 1.34%; over 600 m.a.s. = 1.88%.


CONCLUSIONS
The knowledge of the number of children affected by genetic and malformative diseases in the Macerata county is relevant in order to establish a Genetic Service with the aim to better support the medical assistance of these patients and counselling service for the families.
Mercuri
A
A
U.O. Pediatria-Neonatologia A.S.L. 9 Macerata.
Amadori
O
O
Andreozzi
A
A
Antonelli
S
S
Biritognolo
A
A
Bizzarri
V
V
Brocani
P
P
Cardini
E
E
Ciucciuvè
P
P
Corneli
A
A
Costantini
S
S
Di Paolo
R
R
Dolci
M
M
Eugeni
C E
CE
Galvagno
A
A
Gentilucci
P
P
Giustozzi
G
G
Gobbi
C
C
Gradozzi
U
U
Grelloni
M
M
Medorini
W
W
Murri
B
B
Pasquali-Coluzzi
F
F
Riccioni
R
R
Rossi
R
R
Ruggeri
A G
AG
Salvucci
M C
MC
Seri
A
A
Scuppa
U
U
Silvestri
L
L
Sorelli
L
L
Toscanelli
A
A
Venanzetti
N
N
Perri
P F
PF
Gabrielli
O
O
D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000453:epidemiology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D012042:Registries