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

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Abstract

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. Clin Dysmorphol 18:205-208.

Original languageEnglish
Pages (from-to)205-208
Number of pages4
JournalClinical Dysmorphology
Volume18
Issue number4
DOIs
Publication statusPublished - Oct 2009

Keywords

  • Gingival overgrowth
  • Hypertrichosis
  • Mental retardation
  • Ramon syndrome
  • Seizures
  • Zimmermann-Laband syndrome

ASJC Scopus subject areas

  • Anatomy
  • Genetics(clinical)
  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health

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