Literature DB >> 6437074

The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity.

E D Cherstvoy, G I Lazjuk, T I Ostrovskaya, I A Shved, G I Kravtzova, I W Lurie, A I Gerasimovich.   

Abstract

An analysis of 33 autopsied cases with the Smith-Lemli-Opitz syndrome (including 8 cases from our practice) is presented. Polydactyly in dead SLOS children was found in 51% (17/33) of cases and occurred significantly more often in this group than in the whole group of SLOS (20-22%). Certain morphological differences in the type of renal, cerebral, pulmonary and pancreatic anomalies indicate the existence of two phenotypically similar SLOS: 1) with polydactyly; 2) without it. The presented data initiate SLOS heterogeneity.

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Year:  1984        PMID： 6437074     DOI： 10.1007/bf00695225

Source DB:  PubMed          Journal:  Virchows Arch A Pathol Anat Histopathol        ISSN： 0174-7398


  18 in total

1.  The pathological anatomy of the Smith-Lemli-Opitz syndrome.

Authors:  E D Cherstvoy; G I Lazjuk; I W Lurie; M K Nedzved; S S Usoev
Journal:  Clin Genet       Date:  1975 May-Jun       Impact factor: 4.438

2.  The Smith-Lemli-Opitz syndrome. Report of a consanguineous Arab infant with bilateral focal renal dysplasia.

Authors:  K F Akl; G S Khudr; V M Der Kaloustian; S S Najjar
Journal:  Clin Pediatr (Phila)       Date:  1977-07       Impact factor: 1.168

3.  Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

Authors:  L Dallaire
Journal:  J Med Genet       Date:  1969-06       Impact factor: 6.318

4.  Smith-Lemli-Opitz syndrome: report of a new case and review of the literature.

Authors:  S Srsen
Journal:  Acta Paediatr Acad Sci Hung       Date:  1972

5.  Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings.

Authors:  R N Fine; J L Gwinn; E F Young
Journal:  Am J Dis Child       Date:  1968-04

6.  Smith-Lemli-Opitz syndrome with cardiovascular abnormality.

Authors:  C D Robinson; L W Perry; A Barlee; G W Mella
Journal:  Pediatrics       Date:  1971-05       Impact factor: 7.124

7.  Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome.

Authors:  J Zizka; J Maresová; Z Kerekes; Z Nozicka; V Jüttnerová; P Balícek
Journal:  Acta Paediatr Scand       Date:  1983-01

8.  Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.

Authors:  H G Kohler
Journal:  Am J Med Genet       Date:  1983-03

9.  Neurological involvement in the Smith-Lemli-Opitz syndrome: clinical and neuropathological findings.

Authors:  C A Garcia; P A McGarry; M Voirol; C Duncan
Journal:  Dev Med Child Neurol       Date:  1973-02       Impact factor: 5.449

10.  Smith-Lemli-Optiz syndrome without failure to thrive.

Authors:  P Jeanty; D Delbeke; L Lemli; H Dorchy
Journal:  Acta Paediatr Belg       Date:  1977 Jul-Sep
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  9 in total

1.  Autism as a sequence: from heterochronic germinal cell divisions to abnormalities of cell migration and cortical dysplasias.

Authors:  Manuel F Casanova
Journal:  Med Hypotheses       Date:  2014-04-13       Impact factor: 1.538

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.  Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.

Authors:  An N Dang Do; Eva H Baker; Katherine E Warren; Simona E Bianconi; Forbes D Porter
Journal:  Am J Med Genet A       Date:  2017-12-11       Impact factor: 2.802

4.  MRI in Smith-Lemli-Opitz syndrome type I.

Authors:  G Trasimeni; C Di Biasi; M Iannilli; L Orlandi; B Boscherini; R Balducci; G F Gualdi
Journal:  Childs Nerv Syst       Date:  1997-01       Impact factor: 1.475

Review 5.  Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.

Authors:  Roman Chrast; Gesine Saher; Klaus-Armin Nave; Mark H G Verheijen
Journal:  J Lipid Res       Date:  2010-11-09       Impact factor: 5.922

6.  Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.

Authors:  T E Herman; M J Siegel; B C Lee; S B Dowton
Journal:  Pediatr Radiol       Date:  1993

7.  Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.

Authors:  T L Alley; B A Gray; S H Lee; S W Scherer; L C Tsui; G S Tint; C A Williams; R Zori; M R Wallace
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

8.  Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

Authors:  Ryan W Y Lee; Sandra K Conley; Andrea Gropman; Forbes D Porter; Eva H Baker
Journal:  Am J Med Genet A       Date:  2013-08-05       Impact factor: 2.802

Review 9.  Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

Authors:  M L Merrer; M L Briard; S Girard; N Mulliez; C Moraine; M C Imbert
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318
  9 in total

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