Floating Harbor syndrome. Case report and further syndrome delineation

Ann Genet. 1997;40(3):133-8.


Floating Harbor syndrome was diagnosed in a 9 years old girl on the basis of short stature, delayed bone age, mild mental retardation, speech problems and specific craniofacial features. A detailed phenotype description is given and evaluated together with 18 other published case reports according to the concept of the Munich Dysmorphology Database (Stengel-Rutkowski et al., 1996) with the aim to delineate the spectrum of clinical and anthropological features.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Age Determination by Skeleton
  • Child
  • Craniofacial Abnormalities / genetics*
  • Female
  • Growth Disorders / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Phenotype
  • Syndrome