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Titolo:
Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple - A case report
Autore:
Gortzak-Uzan, L; Sheiner, E; Gohar, J;
Indirizzi:
Ben Gurion Univ Negev, Fac Hlth Sci, Soroka Univ Med Ctr, Dept Obstet & Gynecol, IL-84101 Beer Sheva, Israel Ben Gurion Univ Negev Beer Sheva Israel IL-84101 4101 Beer Sheva, Israel
Titolo Testata:
JOURNAL OF REPRODUCTIVE MEDICINE
fascicolo: 7, volume: 45, anno: 2000,
pagine: 588 - 590
SICI:
0024-7758(200007)45:7<588:PDOCHI>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
INFANTILE HYPOPHOSPHATASIA;
Keywords:
hypophosphatasia; Bedouins; consanguinity; prenatal diagnosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
7
Recensione:
Indirizzi per estratti:
Indirizzo: Gortzak-Uzan, L Ben Gurion Univ Negev, Fac Hlth Sci, Soroka Univ Med Ctr, Dept Obstet & Gynecol, IL-84101 Beer Sheva, Israel Ben Gurion Univ Negev Beer Sheva Israel IL-84101 Israel
Citazione:
L. Gortzak-Uzan et al., "Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple - A case report", J REPRO MED, 45(7), 2000, pp. 588-590

Abstract

BACKGROUND: Hypophosphatasia is a rare autosomal recessive metabolic disorder characterized by lo ru serum and tissue alkaline phosphatase activity, increased urinary excretion of phosphoethanolamine and ricketslike changes in the bone. CASE: We present a case of prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. The case was diagnosed at 24.5 weeksof gestation. Sonographic evaluation revealed a fetus with short and deformed bones and a hypoechogenic skull. Based on the sonographic findings and the obstetric history of the couple, hypophosphatasia was diagnosed. The parents opted for pregnancy termination. Feticide was accomplished uneventfully. Laboratory findings confirmed the diagnosis. CONCLUSION: This couple was prone to this metabolic disorder due to their consanguineous marriage and previous affected fetus. Early-first-trimester prenatal diagnosis by first-trimester chorionic villus sampling or second-trimester measuring of alkaline phosphatase activity in the amniotic fluid is required to exclude this lethal disease in subsequent pregnancies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 09:40:00