Autosomal dominant Klippel-Feil anomaly with cleft palate

Clin Dysmorphol. 1998 Jan;7(1):11-5.

Abstract

Klippel-Feil anomaly is characterized by the fusion of two or more cervical vertebrae. Most cases are sporadic but dominant and recessive inheritance are well described. Associated anomalies such as a cleft palate are common. We describe a unique family with autosomal dominantly inherited Klippel-Feil anomaly in six individuals associated with a cleft palate in four. One patient, a child, has a cleft palate only but may develop radiological cervical fusion with time, as documented in two other family members.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Cleft Palate / complications*
  • Cleft Palate / genetics*
  • Female
  • Genes, Dominant
  • Humans
  • Klippel-Feil Syndrome / complications*
  • Klippel-Feil Syndrome / diagnostic imaging
  • Klippel-Feil Syndrome / genetics*
  • Male
  • Pedigree
  • Radiography