Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance

Clin Dysmorphol. 2012 Jan;21(1):11-14. doi: 10.1097/MCD.0b013e32834af5a7.

Abstract

Floating-Harbor Syndrome is a growth retardation syndrome with delayed bone age, typical facial features, and retarded speech development of unknown etiology. Very few familial cases have been reported. We report on the fourth case in a mother and daughter, suggesting autosomal dominant inheritance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Craniofacial Abnormalities / genetics*
  • Facies
  • Female
  • Genes, Dominant
  • Genetic Predisposition to Disease
  • Growth Disorders / genetics*
  • Heart Septal Defects, Ventricular / genetics*
  • Humans
  • Intellectual Disability / genetics
  • Language Development Disorders / genetics

Supplementary concepts

  • Floating-harbor syndrome