[William-Beuren syndrome: description of a case].
The Authors describe a case of William-Beuren Syndrome, also know as "Fanconi-Schlesinger Syndrome" or "Idiopathic Hypercalcaemia, supravalvular aortic stenosis, elfin facies syndrome". Irritability and chronic constipation are early features. Hypercalcaemia may occur in infancy but rarely after 1 year age. The facies is characteristic. Supravalvular aortic stenosis is the most frequent cardiac abnormality. Other common features are short stature, mental retardation and significant behavioural disorders. In this case report typical facies, short stature, behavioural disorders are associated with epilepsy in early years of life. Hypercalcaemia or cardiovascular malformation were not found.
Bonvini
G
G
Divisione di Pediatria, Ospedale di Sesto S. Giovanni, Milano, Italia.
Cotta-Ramusino
A
A
Ricciardi
G
G
Pagliano-Sassi
L
L
D001024:Aortic Valve Stenosis / Q000151:congenital* / Q000175:diagnosis; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome
Sindrome di William-Beuren: descrizione di un caso.