Gorlin-Goltz Syndrome: case report and review of literature

Authors

  • Adrianne Rahde Bischoff Hospital de Clínicas de Porto Alegre
  • Yina Mercedes Timana Delgado Hospital de Clínicas de Porto Alegre
  • Fabiano de Oliveira Poswar Hospital de Clínicas de Porto Alegre
  • Eduardo Tarasconi Ruschel Universidade Federal do Rio Grande do Sul
  • Eduardo Kohls Toralles Universidade Federal do Rio Grande do Sul
  • Gabriel Lona Curubeto Lona de Miranda Universidade Federal do Rio Grande do Sul
  • Mario Francisco Silveira Rita Hospital de Clínicas de Porto Alegre

Keywords:

Gorlin-Goltz Syndrome, bifid rib, skin cancer

Abstract

Description of a case report of Gorlin-Goltz Syndrome diagnosed in a male newborn who presented increased head circumference and bifid ribs. Mother and grandmother presented typical physical findings of the syndrome, including palmar pits, odontogenic cysts, and history of multiple skin cancer resections. The diagnosis was based on clinical findings of three relatives. A literature review is also presented.

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Author Biographies

Adrianne Rahde Bischoff, Hospital de Clínicas de Porto Alegre

Departamento de Pediatria

Yina Mercedes Timana Delgado, Hospital de Clínicas de Porto Alegre

Departamento de Pediatria

Fabiano de Oliveira Poswar, Hospital de Clínicas de Porto Alegre

Departamento de Genética

Eduardo Tarasconi Ruschel, Universidade Federal do Rio Grande do Sul

Faculdade de Medicina

Eduardo Kohls Toralles, Universidade Federal do Rio Grande do Sul

Faculdade de Medicina

Gabriel Lona Curubeto Lona de Miranda, Universidade Federal do Rio Grande do Sul

Faculdade de Medicina

Mario Francisco Silveira Rita, Hospital de Clínicas de Porto Alegre

Departamento de Pediatria

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Published

2014-10-20

How to Cite

1.
Rahde Bischoff A, Mercedes Timana Delgado Y, de Oliveira Poswar F, Tarasconi Ruschel E, Kohls Toralles E, Lona Curubeto Lona de Miranda G, Francisco Silveira Rita M. Gorlin-Goltz Syndrome: case report and review of literature. Clin Biomed Res [Internet]. 2014 Oct. 20 [cited 2025 Apr. 29];34(3). Available from: https://seer.ufrgs.br/index.php/hcpa/article/view/49170

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