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Dentofacial manifestations of a Paediatric patient with Goltz–Gorlin Syndrome
  1. Anku Tupper,
  2. Pavithra Devi K,
  3. Morankar Rahul and
  4. Nitesh Tewari
  1. Pediatric and Preventive Dentistry, All India Institute of Medical Sciences, Delhi, New Delhi, India
  1. Correspondence to Pavithra Devi K; drpavithrapgi17{at}


Goltz–Gorlin syndrome is a rare X-linked inherited disorder associated with PORCN (porcupine homolog—Drosophila) gene mutation. It primarily affects the skin and its appendages. The characteristic cutaneous features include a blaschko-linear pattern, skin atrophy, pigmentary changes, and telangiectasia. The oral manifestations have been reported in more than half of the affected individuals. The most common oral findings include enamel hypoplasia, hypodontia, supernumerary teeth, microdontia, vertical grooving of the teeth, taurodontism, fusion, and abnormal root morphology reported in sporadic cases. The objective of this case report is to describe the dentofacial characteristics of a middle childhood aged girl with Goltz–Gorlin syndrome.

  • Dentistry and oral medicine
  • Dermatology

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  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: AT and PK. The following authors gave final approval of the manuscript: MR and NT.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.