Tethered Smith- Lemli-Opitz Syndrome – case report

Authors

  • Joanna Madej Ze Szpitala Wojewódzkiego nr 2 w Rzeszowie, Specjalistycznego Oddziału Dziecięcego Ordynator: dr n. med. J. Rusin

Keywords:

Smith- Lemli- Opitz Syndrome, metabolic disease, cholesterol metabolic pathway, congenital defects

Abstract

Smith- Lemli- Opitz Syndrome is a metabolic disease, inherited AR, is characterised by psychomotor retardation and many development defects.

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References

Smith-Lemli-Opitz Syndrome, SLOS, OMIM 270400

Krajewska-Walasek M., Małunowicz E.: Najnowsze metody diagnozowania zespołu Smitha, Lemlego, Opitza, Pediatria Polska 2003

Krajewska-Walasek M., Zespół Smitha, Lemlego i Opitza- rozpoznawanie i postępowanie, Postępy Neonatologii 2000

Krajewska-Walasek M., Dysmorfologia w praktyce neuropediatrycznej, Neurologia Dziecięca, 2000

- dehydocholesterol reductase, DHCR7, OMIM 602858

Kopyść Z., Kompendium zespołów i rzadkich chorób dziecięcych, Warszawa 1984

Dobrzańska A., Ryżko J.: Pediatria, 2005

Kubicka K., Kawalec W.: Pediatria 2004

Korniszewski L.: Dziecko z zespołem wad wrodzonych, PZWL 2005

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Published

2007-07-30

How to Cite

Madej, J. (2007). Tethered Smith- Lemli-Opitz Syndrome – case report. European Journal of Clinical and Experimental Medicine, 5(2), 175–178. Retrieved from https://journals.ur.edu.pl/ejcem/article/view/13360

Issue

Vol. 5 No. 2 (2007): Medical Journal of the Rzeszow University

Section

CLINICAL OBSERVATIONS

License

Copyright (c) 2007 Medical Journal of the Rzeszow University

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