Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies

M Krajewska-Walasek; W Gradowska; J Ryzko; P Socha; J Chmielik; W Szapłyko; J Kasprzyk; B Górska; M Szreter; J Wolski; H Rysiewski; E M Małunowicz; H Gregorek; J Michałkiewicz; E Pietraszek; J Szapłyko

Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies

Clin Dysmorphol. 1999 Jan;8(1):29-40.

Authors

M Krajewska-Walasek¹, W Gradowska, J Ryzko, P Socha, J Chmielik, W Szapłyko, J Kasprzyk, B Górska, M Szreter, J Wolski, H Rysiewski, E M Małunowicz, H Gregorek, J Michałkiewicz, E Pietraszek, J Szapłyko

Affiliation

¹ Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland. walasek@czd.waw.pl

PMID: 10327249

Abstract

We present here extensive clinical and biochemical data on thirteen SLOS (type I) patients with proven defect in cholesterol biosynthesis for further delineation of the classical SLOS phenotype at different patient ages.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Aging / metabolism
Aging / pathology*
Anthropometry
Cholesterol / biosynthesis
Female
Humans
Male
Phenotype
Smith-Lemli-Opitz Syndrome / metabolism*
Smith-Lemli-Opitz Syndrome / pathology*
Smith-Lemli-Opitz Syndrome / physiopathology

Substances

Cholesterol