SEVERAL OSSEOUS AND OTHER CALCIFICATIONS IN A MALE INFANT WITH WILLIAMS-BEUREN SYNDROME

Citation
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
Citations number
27
Categorie Soggetti
Pediatrics
ISSN journal
00269298
Volume
143
Issue
12
Year of publication
1995
Pages
1220 - 1223
Database
ISI
SICI code
0026-9298(1995)143:12<1220:SOAOCI>2.0.ZU;2-C
Abstract
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.