Floating Harbor syndrome. Case report and further syndrome delineation.

Abstract

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.