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Literature DB >> 16435228

Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.

D Haas¹, S Armbrust, J-P Haas, J Zschocke, K Mühlmann, C Fusch, L M Neumann.

Abstract

The diagnostic biochemical hallmarks of Smith-Lemli-Opitz syndrome (SLOS) are elevated concentrations of the cholesterol precursors 7- and 8-dehydrocholesterol (7- and 8-DHC). We describe a patient with classical SLOS phenotype and oesophageal achalasia, which has not been reported in SLOS patients before. Plasma 7-DHC and 8-DHC were only marginally elevated. The diagnosis was confirmed by sterol analysis in cultured skin fibroblasts and mutation analysis.

Entities: Chemical Disease Species

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Year: 2005 PMID： 16435228 DOI： 10.1007/s10545-005-0168-9

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

11 in total

1. Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

Authors: M J Nowaczyk; D T Whelan; R E Hill
Journal: Am J Med Genet Date: 1998-08-06

Review 2. The Smith-Lemli-Opitz syndrome.

Authors: R I Kelley; R C Hennekam
Journal: J Med Genet Date: 2000-05 Impact factor: 6.318

3. Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

Authors: M Witsch-Baumgartner; P Clayton; N Clusellas; D Haas; R I Kelley; M Krajewska-Walasek; S Lechner; M Rossi; J Zschocke; G Utermann
Journal: Hum Mutat Date: 2005-04 Impact factor: 4.878

4. Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

Authors: Fernanda A A Langius; Hans R Waterham; Gerrit Jan Romeijn; Wendy Oostheim; Martina M J de Barse; Lambertus Dorland; Marinus Duran; Frits A Beemer; Ronald J A Wanders; Bwee Tien Poll-The
Journal: Am J Med Genet A Date: 2003-09-15 Impact factor: 2.802

5. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

Authors: G S Tint; M Irons; E R Elias; A K Batta; R Frieden; T S Chen; G Salen
Journal: N Engl J Med Date: 1994-01-13 Impact factor: 91.245

6. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

Authors: M Witsch-Baumgartner; M Gruber; H G Kraft; M Rossi; P Clayton; M Giros; D Haas; R I Kelley; M Krajewska-Walasek; G Utermann
Journal: J Med Genet Date: 2004-08 Impact factor: 6.318

7. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

Authors: Sharon Ginat; Kevin P Battaile; Brian C Battaile; Cheryl Maslen; K Michael Gibson; Robert D Steiner
Journal: Mol Genet Metab Date: 2004 Sep-Oct Impact factor: 4.797

8. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.

Authors: G S Tint; G Salen; A K Batta; S Shefer; M Irons; E R Elias; D N Abuelo; V P Johnson; M Lambert; R Lutz
Journal: J Pediatr Date: 1995-07 Impact factor: 4.406

9. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts.

Authors: R I Kelley
Journal: Clin Chim Acta Date: 1995-04-30 Impact factor: 3.786