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

Rivista Italiana di Pediatria

Volumn 23, Issue 6, 1997, Pages 1058-1061

  Silengo, M ^a   Ferraris, S ^a   Silvestro, L ^a   Testa, A ^a   Lace, R ^b   Marras, E ^b   Veronese, V ^b   Franceschini, P ^b  

^a UNIVERSITY OF TURIN   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

Author keywords

Autosomal recessive; Midface retraction; Pyelocalycectasia; Schinzel Giedion syndrome; Skeletal dysplasia

Indexed keywords

EID: 33748030125     PISSN: 03925161     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Schinzel A, Giedion A. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, cardiac and renal malformation in sibs. Am J Med Genet 1978;1:361.
2. Elliott AM, Meagher-Villemure K, Oudjane K, Der Kaloustian VM. Schinzel-Giedion Syndrome: further delineation of the phenotype. Clin Dysmorph 1996;5:135.
3. Saal HM, Rosenbaum KN, Samango-Sprouse CA. The Schinzel-Giedion syndrome: insight into phenotype and natural history. Pediatr Res 1989;25:78A.
4. Antich J, Manzanares R, Camarasa F, Krauel J, Vila J, Cusi V. Schinzel-Giedion Syndrome: report of two sibs. Am J Med Genet 1995;59:96.
5. Santos H, Cordeiro I, Medeira A, Medonca E, Lobo Antunes N, Coelho Rosa F. Schinzel-Giedion syndrome: a patient with hypothyroidism and diabetes insipidus. Genet Counsel 1994;5:187.
6. Okamoto N, Takeuchi M, Kitajima H, Hosokawa S. A patient with Schinzel-Giedion syndrome and a review of 20 patients. Jpn J Hum Genet 1995;40:189.
7. Labrune P, Lyonnet S, Zupan V, Imbert M-C, Goutires F, Hubert P, Lemerrer M. Three new cases of Schinzel-Giedion syndrome and review of the literature. Am J Med Genet 1994;50:90.
8. Verloes A, Moës D, Palumbo L, Elmer C, François A, Bricteux G. Schinzel-Giedion syndrome. Eur J Pediatr 1993;152:421.
9. Herman TE, Sweetser DA, McAlister WH, Dowton SB. Schinzel-Giedion syndrome and congenital megacalyces. Pediatr Radiol 1993;23:111.
10. MacLennan AC, Doyle D, Simpson RM. Neurosonography and pathology in the Schinzel-Giedion syndrome. J Med Genet 1991;28:547.
11. Gibbons RJ, Wilkie AOM, Weatherall DJ, Higgs DR. A newly defined Xlinked mental retardation associated with thalassemia. J Med Genet 1991;28:729.
12. Burk U. Mittelgesichtshypoplasie, Skelettanomalien, Apnoen, Retardierungeine weitere Beobachtung. In: Tolksdorf M, Spranger J, eds. Klinische Genetik in der Padiatrie. Symposium in Kiel, Jahrgang 8, Heft 5 (pub) 1982.
13. Robin NH, Grace K, Desouza TG, McDonald- McGinn D, Zackai EH. New finding of Schinzel-Giedion syndrome: a case with malignant sacrococcygeal teratoma. Am J Med Genet 1993;47:852.
14. Rodriguez JI, Jimenez-Heffernan JA, Leal J. Schinzel-Giedion syndrome: autopsy report and additional findings. Am J Med Genet 1994;53:374.
15. Al-Gazali LI, Farndon P, Burn J, Flannery DB, Davison C, Mueller RF. The Schinzel-Giedion syndrome. J Med Genet 1990;27:42.