Literature DB >> 16100477

Proteus syndrome: a rare cause of hemihypertrophy and macrodactyly on bone scanning.

U Joshi1, J A van der Sluijs, G J J Teule, R Pijpers.   

Abstract

Proteus syndrome is a rare, sporadic genetic disorder characterized by overgrowth of multiple different tissues in a mosaic pattern. It is associated with connective tissue nevi, epidermal nevi, disproportionate overgrowth of multiple tissues, vascular malformations, characteristic tumors, and specific facial anomalies. Joseph Merrick, popularly known as the Elephant Man, is now believed to have suffered from Proteus syndrome. A case of Proteus syndrome and associated findings on bone scintigraphy are presented.

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Year:  2005        PMID: 16100477     DOI: 10.1097/01.rlu.0000174199.22414.31

Source DB:  PubMed          Journal:  Clin Nucl Med        ISSN: 0363-9762            Impact factor:   7.794


  2 in total

1.  Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma.

Authors:  Yassine El Hassani; Benoit Jenny; Brigitte Pittet-Cuenod; Armand Bottani; Paolo Scolozzi; Hulya Ozsahin Ayse; Benédict Rilliet
Journal:  Childs Nerv Syst       Date:  2013-04-05       Impact factor: 1.475

2.  Use of somatic mutations to quantify random contributions to mouse development.

Authors:  Wenyu Zhou; Yunbing Tan; Donovan J Anderson; Eva M Crist; Hannele Ruohola-Baker; Stephen J Salipante; Marshall S Horwitz
Journal:  BMC Genomics       Date:  2013-01-18       Impact factor: 3.969

  2 in total

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