Focal dermal hypoplasia: a case report and literature review

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011 Aug;112(2):e11-8. doi: 10.1016/j.tripleo.2011.03.012.


Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is an autosomal dominant disease affecting tissues derived from the ectoderm and mesoderm. Knowledge and early diagnosis of the craniofacial alterations commonly found in patients with FDH provide oral health care professionals with effective preventive and therapeutic tools. This article aims to review the craniofacial characteristics present in FDH and the main systemic manifestations that have implications for dental management, while presenting a new case of the syndrome with novel oral findings.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anodontia / diagnosis
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis*
  • Cuspid / abnormalities
  • Dental Care for Chronically Ill
  • Dental Enamel Hypoplasia / diagnosis
  • Early Diagnosis
  • Facial Asymmetry / diagnosis
  • Female
  • Focal Dermal Hypoplasia / diagnosis*
  • Follow-Up Studies
  • Humans
  • Incisor / abnormalities
  • Labial Frenum / abnormalities
  • Molar / abnormalities
  • Palate, Hard / abnormalities
  • Tooth Abnormalities / diagnosis*
  • Tooth Eruption, Ectopic / diagnosis