Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

J Pediatr Endocrinol Metab. 2012;25(1-2):207-12. doi: 10.1515/jpem.2011.406.


The established facts to date relating to Floating-Harbor syndrome (FHS) are its characteristic typical triangular facies with bulbous nose and thin lips, short stature, delayed bone age, and mild mental retardation with delay in expressive speech; its sporadic occurrence without Mendelian inheritance; and its unknown cause. Little is known about the growth hormone-insulin-like growth factor 1 (GH-IGF-1) axis and the effect of GH treatment in children with this syndrome. We report on a 9-year-old girl born small for gestational age (SGA, birth length -2.2 standard deviation score) with persistent short stature who has been treated with GH from 3.5 years onward with a modest growth response. Revision of the case led to the diagnosis of FHS. No abnormalities were found in the sequence or copy number of IGF-1 receptor or in the genomic single-nucleotide polymorphism array. GH treatment led to an increase in serum IGF-1 in the upper normal range, but the growth response was modest, suggesting a defect in IGF-1 signaling. Early recognition of this entity is important, as it enables specific diagnostic tests targeted at other abnormalities associated with FHS.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / drug therapy*
  • Abnormalities, Multiple / genetics
  • Child
  • Craniofacial Abnormalities / drug therapy*
  • Craniofacial Abnormalities / genetics
  • Female
  • Growth Disorders / drug therapy*
  • Growth Disorders / genetics
  • Heart Septal Defects, Ventricular / drug therapy*
  • Heart Septal Defects, Ventricular / genetics
  • Human Growth Hormone / therapeutic use*
  • Humans
  • Insulin-Like Growth Factor I / physiology
  • Polymorphism, Single Nucleotide
  • Receptor, IGF Type 1 / genetics


  • Human Growth Hormone
  • Insulin-Like Growth Factor I
  • Receptor, IGF Type 1

Supplementary concepts

  • Floating-harbor syndrome