Literature DB >> 2395167

Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?

P A McKeever1, I D Young.   

Abstract

Two cases of Smith-Lemli-Opitz syndrome type II are presented. During the late stages of both pregnancies maternal oestriol levels were unrecordable and there was evidence of suppression of maternal adrenal function. We speculate on the existence of a primary defect in the fetal adrenals.

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Year:  1990        PMID： 2395167      PMCID： PMC1017187          DOI： 10.1136/jmg.27.7.465

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome?

Authors:  D Donnai; J Burn; H Hughes
Journal:  Am J Med Genet       Date:  1987-11

2.  Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

Authors:  C J Curry; J C Carey; J S Holland; D Chopra; R Fineman; M Golabi; S Sherman; R A Pagon; J Allanson; S Shulman
Journal:  Am J Med Genet       Date:  1987-01

3.  Decrease of pancreatic somatostatin in neonatal nesidioblastosis.

Authors:  A E Bishop; J M Polak; P G Chesa; C M Timson; M G Bryant; S R Bloom
Journal:  Diabetes       Date:  1981-02       Impact factor: 9.461

4.  The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

Authors:  D Donnai; I D Young; W G Owen; S A Clark; P F Miller; W F Knox
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

Review 5.  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
  5 in total
  7 in total

Review 1.  The Smith-Lemli-Opitz syndrome.

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

Review 2.  Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.

Authors:  M J Nowaczyk; D T Whelan; T W Heshka; R E Hill
Journal:  CMAJ       Date:  1999-07-27       Impact factor: 8.262

3.  Adrenal function in Smith-Lemli-Opitz syndrome.

Authors:  Simona E Bianconi; Sandra K Conley; Meg F Keil; Ninet Sinaii; Kristina I Rother; Forbes D Porter; Constantine A Stratakis
Journal:  Am J Med Genet A       Date:  2011-10-11       Impact factor: 2.802

4.  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

5.  Pancreas development is promoted by cyclopamine, a hedgehog signaling inhibitor.

Authors:  S K Kim; D A Melton
Journal:  Proc Natl Acad Sci U S A       Date:  1998-10-27       Impact factor: 11.205

6.  Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

Authors:  A K Ryan; K Bartlett; P Clayton; S Eaton; L Mills; D Donnai; R M Winter; J Burn
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

Review 7.  Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.

Authors:  David D Weaver; Benjamin D Solomon; Kelly Akin-Samson; Richard I Kelley; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908
  7 in total

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