The Williams syndrome: an Italian collaborative study.
Williams syndrome (WS) is a multiple congenital anomalies/mental retardation syndrome caused by a microdeletion on the long arm of chromoome 7 including the elastin gene. Possibly it is a contiguous gene syndrome with autosomal dominant transmission. Seventy-seven WS patients from 11 Italian Pediatric-Dysmorphology-Genetics Units were collected by means of a questionnaire designed to draw a comprehensive clinical picture, to define the frequency of different traits and associations thereof, to better understand the clinical evolution, to improve the prognosis and to ameliorate the follow-up. The most important signs for diagnosis, based on their relative frequencies, are: mental retardation with characteristic outgoing behaviour and hoarse voice; facial findings like stellate iris, periorbital fullness and thick lips; congenital heart disease. The frequency of the clinical signs reported in our patients are on the whole concordant with those found in the literature; the only significant differences concern low stature, hallus valgus, hypoplastic nails, joint contractures and ear infections. The multisystemic nature of this syndrome requires a coordinated and integrated approach in order to avoid fragmentary interventions.
Franceschini
P
P
Istituto di Discipline Pediatriche, Università degli Studi, Torino.
Guala
A
A
Vardeu
M P
MP
Signorile
F
F
Franceschini
D
D
Mastroiacovo
P
P
Gianotti
A
A
Livini
E
E
Lalatta
F
F
Selicorni
A
A
Andria
G
G
Scarano
G
G
Della Monica
M
M
Rizzo
R
R
Zelante
L
L
Stabile
M
M
Gabrielli
O
O
Neri
G
G
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019066:Facies; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007558:Italy / Q000453:epidemiology; D008423:Maternal Age; D010290:Parents; D010331:Paternal Age; D018980:Williams Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics