Literature DB >> 3783663

The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: report of a second case.

R A Collacott, B P O'Malley, I D Young.   

Abstract

A severely mentally handicapped Caucasian male with cataracts, deafness, distal muscle wasting and skeletal abnormalities, including calcification of the pinnae, is described. The findings in this patient strongly resemble those in a male described in 1982 by Primrose, and it suggested that this unusual pattern of abnormalities constitutes a discrete entity, which we propose should be known as 'Primrose syndrome'.

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Year:  1986        PMID: 3783663     DOI: 10.1111/j.1365-2788.1986.tb01324.x

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN: 0022-264X


  3 in total

1.  Motor tics, stereotypies, and self-flagellation in primrose syndrome.

Authors:  P Dalal; N D Leslie; N M Lindor; D L Gilbert; A J Espay
Journal:  Neurology       Date:  2010-07-20       Impact factor: 9.910

2.  Zbtb20 Restrains CD8 T Cell Immunometabolism and Restricts Memory Differentiation and Antitumor Immunity.

Authors:  Yanbo Sun; Nicholas K Preiss; Kristine B Valenteros; Yasmin Kamal; Young-Kwang Usherwood; H Robert Frost; Edward J Usherwood
Journal:  J Immunol       Date:  2020-09-30       Impact factor: 5.422

3.  Primrose syndrome: Characterization of the phenotype in 42 patients.

Authors:  Daniela Melis; Daniel Carvalho; Tina Barbaro-Dieber; Alberto J Espay; Michael J Gambello; Blanca Gener; Erica Gerkes; Marrit M Hitzert; Hanne B Hove; Sandra Jansen; Petr E Jira; Katherine Lachlan; Leonie A Menke; Vinodh Narayanan; Damara Ortiz; Eline Overwater; Renata Posmyk; Keri Ramsey; Alessandro Rossi; Renata Lazari Sandoval; Constance Stumpel; Kyra E Stuurman; Viviana Cordeddu; Peter Turnpenny; Pietro Strisciuglio; Marco Tartaglia; Sheela Unger; Todd Waters; Clare Turnbull; Raoul C Hennekam
Journal:  Clin Genet       Date:  2020-04-20       Impact factor: 4.438

  3 in total

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