Literature DB >> 8133838

Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?

O Gabrielli1, V Bonifazi, A M Offidani, A Cellini, G V Coppa, P L Giorgi.   

Abstract

The authors report a case of difficult nosological classification. The patient, a 4-year-old female shows facial asymmetry, preauricular tags, anterior displacement of the anus and rib anomalies. Some of these clinical signs are present both in the Goldenhar syndrome and in the Townes-Brocks syndrome.

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Year:  1993        PMID： 8133838

Source DB:  PubMed          Journal:  Minerva Pediatr        ISSN： 0026-4946            Impact factor:   1.312


  2 in total

Review 1.  Townes-Brocks syndrome.

Authors:  C M Powell; R C Michaelis
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

2.  Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Authors:  J Kohlhase; P E Taschner; P Burfeind; B Pasche; B Newman; C Blanck; M H Breuning; L P ten Kate; P Maaswinkel-Mooy; B Mitulla; J Seidel; S J Kirkpatrick; R M Pauli; D S Wargowski; K Devriendt; W Proesmans; O Gabrielli; G V Coppa; E Wesby-van Swaay; R C Trembath; A A Schinzel; W Reardon; E Seemanova; W Engel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025
  2 in total

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