Literature DB >> 2816997

Oliver McFarlane syndrome: a 25-year follow-up.

J R Sampson1, J L Tolmie, J S Cant.   

Abstract

We describe findings in a 29-year-old woman with Oliver McFarlane syndrome after 25 years of follow-up, and we review findings in six other reported cases. Pigmentary retinal degeneration, trichomegaly, prenatal onset growth failure, anterior pituitary deficiencies, and peripheral neuropathy characterize the condition.

Entities:  

Mesh：

Year:  1989        PMID： 2816997     DOI： 10.1002/ajmg.1320340213

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

1.  Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9 years' follow up.

Authors:  C Haritoglou; G Rudolph; P Kalpadakis; K P Boergen
Journal:  Br J Ophthalmol       Date:  2003-01       Impact factor: 4.638

Review 2.  Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.

Authors:  P Rump; B C Hamel; A J Pinckers; P A van Dop
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

Review 3.  [Hypertrichosis].

Authors:  R M Trüeb
Journal:  Hautarzt       Date:  2008-04       Impact factor: 0.751

4.  Progress in the development of novel therapies for choroideremia.

Authors:  Jasmina Cehajic Kapetanovic; Maria I Patrício; Robert E MacLaren
Journal:  Expert Rev Ophthalmol       Date:  2019-12-26

5.  Increased incidence of thyroid dysfunction and autoimmunity in patients with vernal keratoconjunctivitis.

Authors:  Stefano Stagi; Neri Pucci; Laura Di Grande; Cinzia de Libero; Roberto Caputo; Stefano Pantano; Ivan Mattei; Francesca Mori; Maurizio de Martino; Elio Novembre
Journal:  Int J Endocrinol       Date:  2014-07-20       Impact factor: 3.257

6.  Ocular gene therapy for choroideremia: clinical trials and future perspectives.

Authors:  Kanmin Xue; Robert E MacLaren
Journal:  Expert Rev Ophthalmol       Date:  2018-05-18
  6 in total

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