The Schinzel-Giedion syndrome is a congenital disorder characterized by midface retraction, cardiac and urogenital malformations, skeletal displasia, severe developmental retardation and poor outcome. To date, 28 cases have been reported. We describe the first italian case.

The Schinzel-Giedion Syndrome (SGS). Report of a case and review of the literature [La Sindrome di Schinzel-Giedion (SGS). Descrizione di un caso e revisione della letteratura]

SILVESTRO, Leandra;
1997-01-01

Abstract

The Schinzel-Giedion syndrome is a congenital disorder characterized by midface retraction, cardiac and urogenital malformations, skeletal displasia, severe developmental retardation and poor outcome. To date, 28 cases have been reported. We describe the first italian case.
1997
23(6)
1058
1061
Autosomal recessive; Midface retraction; Pyelocalycectasia; Schinzel-Giedion syndrome; Skeletal dysplasia
Silengo M; Ferraris S; Silvestro L; Testa A; Lace R; Marras E; Veronese V; Franceschini P
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/118673
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact