Citation
E. Hershkovitz et al., Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD)syndrome, PRENAT DIAG, 20(6), 2000, pp. 475-477
Citations number
10
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Journal title
PRENATAL DIAGNOSIS
ISSN journal
01973851
→ ACNP
Volume
20
Issue
6
Year of publication
2000
Pages
475 - 477
Database
ISI
SICI code
0197-3851(200006)20:6<475:PDOHRA>2.0.ZU;2-0
Abstract
We used linkage analysis for prenatal diagnosis of the recently reported hy
poparathyroidism, retardation, and dysmorphism (HRD) syndrome. Five cases f
rom four families were evaluated. Three fetuses were carriers and were born
healthy. Two fetuses were affected but the parents decided not to terminat
e the pregnancies. The diagnosis of HRD syndrome was confirmed in these new
borns. This is the first report about prenatal diagnosis of HRD syndrome. C
opyright (C) 2000 John Wiley & Sons, Ltd.