title: Two more diagnostic signs in the Floating-Harbor syndrome.
abstract: A 6-year-old boy with the Floating-Harbor syndrome (F-HS) is described. We propose that his exceptionally high-pitched voice and supernumerary upper incisor are additional diagnostic signs of F-HS. The elevated gliadin antibody levels suggest coeliac disease, which has been described in three out of the 15 previously reported F-HS patients. His facial features and delayed speech development are very characteristic but his shortness (-3 SD) is milder than usual. The patient is a sporadic case like all the F-HS cases so far.
authors.affiliation: Department of Medical Genetics, Family Federation of Finland, Helsinki.
authors.forename: S
authors.initials: S
authors.lastname: Ala-Mello
authors.forename: M
authors.initials: M
authors.lastname: Peippo
mesh_terms: D000015:Abnormalities, Multiple / Q000276:immunology / Q000503:physiopathology*; D000906:Antibodies / Q000276:immunology; D002446:Celiac Disease / Q000503:physiopathology*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005903:Gliadin / Q000276:immunology; D006801:Humans; D007231:Infant, Newborn; D007805:Language Development Disorders / Q000503:physiopathology*; D008297:Male; D013577:Syndrome
chemical_list: D000906:Antibodies; D005903:Gliadin