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  • Poster presentation
  • Open Access

Oral manifestation of Goltz-Gorlin syndrome in a young girl

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Head & Face Medicine20128 (Suppl 1) :P8

  • Published:


  • Public Health
  • Multidisciplinary Approach
  • Maxillofacial Surgery
  • Young Female
  • Young Girl


Focal dermal hypoplasia (Goltz-Gorlin syndrome) is a multi-system disorder characterized by involvement of skin, skeletal system, eyes and face. It is caused by loss-of-function mutations in the PORCN gene. We report the case of a young female, focusing on the dental features.


To describe the oral manifestation of a rare disorder that resembles ectodermal dysplasia (ED).

Case report

Clinical, radiological and genetic findings revealed common features of Goltz-Gorlin syndrome and pure ED. Oro-dental characteristics of the patient mostly corresponded to those described in the literature. However, previously unreported oro-dental findings such as taurodontism, peg-shaped teeth and microdontia are considered unusual for Goltz-Gorlin syndrome, but similar to the dental features of hypohidrotic ED. Clinical characterization of the patient by a multidisciplinary approach is described and a comprehensive review of the literature is presented.

Authors’ Affiliations

Department of Maxillo-Facial Surgery and Paediatric Dentistry, Institute for Maternal and Child Health, Trieste, Italy
Dicle University, Diyarbakır, Turkey
University Hospital Santa Maria della Misericordia, Udine, Italy
University of Bologna, Italy
University of Trieste, Italy
University of Ferrara, Italy
S. Maria Nuova Hospital, Reggio Emilia, Italy


© Callea et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.