title: Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome.
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.
authors.affiliation: Pediatric department, Soroka Medical Center, Beer Sheva, Israel. elih@bgumail.bgu.ac.il
authors.forename: E
authors.initials: E
authors.lastname: Hershkovitz
authors.forename: R
authors.initials: R
authors.lastname: Hershkovitz
authors.forename: L
authors.initials: L
authors.lastname: Hertzug
authors.forename: R
authors.initials: R
authors.lastname: Gorodischer
authors.forename: M
authors.initials: M
authors.lastname: Mazor
authors.forename: R
authors.initials: R
authors.lastname: Parvari
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D004247:DNA / Q000032:analysis; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis; D006228:Hand Deformities, Congenital / Q000175:diagnosis; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications / Q000175:diagnosis*; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis*; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome
chemical_list: D004247:DNA