Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome

Eli Hershkovitz, Reli Hershkovitz, Lora Hertzug, Rafael Gorodischer, Moshe Mazor, Ruti Parvari

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

We used linkage analysis for prenatal diagnosis of the recently reported hypoparathyroidism, retardation, and dysmorphism (HRD) syndrome. Five cases from four families were evaluated. Three fetuses were carriers and were born healthy. Two fetuses were affected but the parents decided not to terminate the pregnancies. The diagnosis of HRD syndrome was confirmed in these newborns. This is the first report about prenatal diagnosis of HRD syndrome. Copyright (C) 2000 John Wiley and Sons, Ltd.

Original languageEnglish
Pages (from-to)475-477
Number of pages3
JournalPrenatal Diagnosis
Volume20
Issue number6
DOIs
StatePublished - 3 Jul 2000

Keywords

  • HRD
  • Hypoparathyroidism
  • Linkage analysis
  • Prenatal diagnosis

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