[Early revealing of Williams-Beuren syndrome by digestive disorders].
Williams-Beuren syndrome is a rare syndrome for which diagnosis is usually made during early childhood. It includes mental retardation, friendly outgoing personality, typical facies, supravalvular aortic stenosis and hypercalcemia.


METHODS
We report the case of a newborn whose gastroesophageal reflux led to the diagnosis of Williams-Beuren syndrome. Hypercalcemia is known to precipitate digestive symptoms but was not present in this case.


CONCLUSIONS
Announcing such a diagnosis in the neonatal period is difficult and may destabilize the family, but at least allows early care of the cardiovascular pathologies that may lead to death.
de Montgolfier-Aubron
I
I
Service de néonatologie, hôpital d'enfants Armand-Trousseau, Paris, France.
Burglen
L
L
Chavet
M S
MS
Tevissen
H
H
Perrot
C
C
Baudon
J J
JJ
Gold
F
F
D000367:Age Factors; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004549:Elastin / Q000235:genetics; D005764:Gastroesophageal Reflux / Q000209:etiology*; D006801:Humans; D017403:In Situ Hybridization; D007231:Infant, Newborn; D008297:Male; D018980:Williams Syndrome / Q000175:diagnosis* / Q000235:genetics
D004549:Elastin