Literature DB >> 8495099

Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head.

I Minguella1, M Ubierna, J Escola, A Roca, J Prats, G Pintos-Morell.   

Abstract

We report the case of a seven-year-old girl with peculiar facial traits who presented for right coxalgia of six weeks' duration. The phenotypic findings corresponded to a trichorhinophalangeal syndrome, type I, and the clinical, radiological and gammagraphic characteristics were indicative of avascular necrosis of the right femoral head, Legg-Perthes-Calvé disease.

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Year:  1993        PMID： 8495099     DOI： 10.1111/j.1651-2227.1993.tb12676.x

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN： 0803-5253            Impact factor:   2.299


  3 in total

1.  The blood supply of early, late, and nonossifying cartilage: preliminary gray-scale and Doppler assessment and their implications.

Authors:  D K Yousefzadeh; K Doerger; C Sullivan
Journal:  Pediatr Radiol       Date:  2007-11-27

2.  Trichorhinophalangeal Syndrome.

Authors:  Mario Vaccaro; Georgi Tchernev; Uwe Wollina; Torello Lotti; Claudio Guarneri
Journal:  Open Access Maced J Med Sci       Date:  2017-07-22

Review 3.  An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.

Authors:  Giulia Trippella; Paolo Lionetti; Sara Naldini; Francesca Peluso; Matteo Della Monica; Stefano Stagi
Journal:  Ital J Pediatr       Date:  2018-11-20       Impact factor: 2.638
  3 in total

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