Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Mild autosomal dominant hypophosphatasia: In utero presentation in two families
Autore:
Moore, CA; Curry, CJR; Henthorn, PS; Smith, JK; Smith, JC; OLague, P; Coburn, SP; Weaver, DD; Whyte, MP;
Indirizzi:
Shriners Hosp Crippled Children, Metab Res Unit, St Louis, MO 63131 USA Shriners Hosp Crippled Children St Louis MO USA 63131 Louis, MO 63131 USA Washington Univ, Sch Med, Dept Med, Div Bone & Mineral Dis, St Louis, MO 63110 USA Washington Univ St Louis MO USA 63110 Mineral Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Pediat, Div Bone & Mineral Dis, St Louis, MO 63110 USA Washington Univ St Louis MO USA 63110 Mineral Dis, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Genet, Div Bone & Mineral Dis, St Louis, MO63110 USA Washington Univ St Louis MO USA 63110 Mineral Dis, St Louis, MO63110 USA Ft Wayne State Dev Ctr, Ft Wayne, IN USA Ft Wayne State Dev Ctr Ft Wayne IN USA e State Dev Ctr, Ft Wayne, IN USA Indiana Univ, Sch Med, Dept Radiol, Indianapolis, IN 46202 USA Indiana Univ Indianapolis IN USA 46202 Radiol, Indianapolis, IN 46202 USA Univ Penn, Sch Vet Med, Med Genet Sect, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 enet Sect, Philadelphia, PA 19104 USA UCSF, Valley Childrens Hosp, Dept Med Genet, Madera, CA USA UCSF Madera CA USA Valley Childrens Hosp, Dept Med Genet, Madera, CA USA Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA Indiana Univ Indianapolis IN USA 46202 Genet, Indianapolis, IN 46202 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 5, volume: 86, anno: 1999,
pagine: 410 - 415
SICI:
0148-7299(19991029)86:5<410:MADHIU>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALKALINE-PHOSPHATASE; INFANTILE HYPOPHOSPHATASIA; PRENATAL-DIAGNOSIS; MUTATIONS; CARRIERS; FORMS;
Keywords:
hypophosphatasia; alkaline phosphatase; metabolic bone disease; rickets;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Whyte, MP Shriners Hosp Crippled Children, Metab Res Unit, 2001 S Lindbergh Blvd, StLouis, MO 63131 USA Shriners Hosp Crippled Children 2001 S Lindbergh Blvd St Louis MO USA 63131
Citazione:
C.A. Moore et al., "Mild autosomal dominant hypophosphatasia: In utero presentation in two families", AM J MED G, 86(5), 1999, pp. 410-415

Abstract

We describe four pregnancies in two families in which mild hypophosphatasia, apparently transmitted as an autosomal dominant trait, manifested in utero as severe long bone bowing. Postnatally, there was spontaneous improvement of the skeletal defects, Recognition of this presentation for hypophosphatasia by family investigation and assessment of the fetal skeleton for degree of ossification and chest size using ultrasonography is important. The prognosis for this condition is considerably better than for more severe forms of hypophosphatasia and for many other disorders that cause skeletal defects with long bone bowing in utero. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 09:41:56