Abstract

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.

Highlights

  • Focal dermal hypoplasia (Goltz-Gorlin syndrome) is a multi-system disorder characterized by involvement of skin, skeletal system, eyes and face

  • We report the case of a young female, focusing on the dental features

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

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Summary

Introduction

Focal dermal hypoplasia (Goltz-Gorlin syndrome) is a multi-system disorder characterized by involvement of skin, skeletal system, eyes and face. Oral manifestation of Goltz-Gorlin syndrome in a young girl M Callea1*, I Yavuz2, L Deroma3, M Montanari4, G Clarich1, M Maglione5, E Albertini6, L Garavelli7

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