I. Konzag et al., SEVERAL OSSEOUS AND OTHER CALCIFICATIONS IN A MALE INFANT WITH WILLIAMS-BEUREN SYNDROME, Monatsschrift fur Kinderheilkunde, 143(12), 1995, pp. 1220-1223
We report a male infant suffering from a Williams-Beuren syndrome, who
died at the age of four months. Beside the typical signs of craniofac
ial dysmorphia and the cardiac defect, the patient showed serious osse
ous and other calcifications, As far as we know, calcifications such a
s those have not been described up to now. The analyses of calcium met
abolism showed normal values. The chromosomal analysis did not reveal
any abnormality, Taking into consideration all findings we regard this
symptom complex as a Williams-Beuren syndrom with an additional idiop
athic hypercalcaemia. With regard to the normocalcaemia at the moment
of the infant's examination it seems to be an advanced stage of a dese
ase having been passed through during prenatal development. As a diffe
rential diagnosis the additional incidence of a special type of chondr
odysplasia could not be totally excluded.