title: Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.
abstract: 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.
authors.affiliation: Institute of Maternal and Chile Research (IDIMI), University of Chile, Santiago, Chile.
authors.forename: Roberto J
authors.initials: RJ
authors.lastname: García
authors.forename: Sarina G
authors.initials: SG
authors.lastname: Kant
authors.forename: Jan M
authors.initials: JM
authors.lastname: Wit
authors.forename: Verónica
authors.initials: V
authors.lastname: Mericq
mesh_terms: D000015:Abnormalities, Multiple / Q000188:drug therapy* / Q000235:genetics; D002648:Child; D019465:Craniofacial Abnormalities / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000188:drug therapy* / Q000235:genetics; D006345:Heart Septal Defects, Ventricular / Q000188:drug therapy* / Q000235:genetics; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000502:physiology; D020641:Polymorphism, Single Nucleotide; D017526:Receptor, IGF Type 1 / Q000235:genetics
chemical_list: D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D017526:Receptor, IGF Type 1