Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview

Clin Dysmorphol. 2009 Oct;18(4):205-8. doi: 10.1097/MCD.0b013e32832dc393.


We report on a patient with congenital generalized hypertrichosis, mental retardation, tonic-clonic seizures with onset during the first year of life and gingival overgrowth, unrelated to antiepileptic treatment. This phenotype represents a unique combination of features, bridging the variable association of gingival overgrowth, generalized hypertrichosis, mental retardation or epilepsy. This may occur in combination with nail and/or digital anomalies, as in Zimmermann-Laband syndrome, and the broader phenotypes of the Anavi, Göhlich-Ratmann and Ramon syndromes. On the basis of the clinical overlap between our patient and these disorders inherited either as autosomal dominant or recessive traits and unknown molecular defects, a recurrence risk of one in four was considered appropriate.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Electroencephalography
  • Epilepsy / complications*
  • Female
  • Gingiva / abnormalities*
  • Humans
  • Hypertrichosis / complications*
  • Hypertrichosis / congenital*
  • Infant
  • Infant, Newborn
  • Intellectual Disability / complications*
  • Male
  • Pregnancy