title: Floating-Harbor syndrome and celiac disease.
abstract: We report on a 17-year-old young woman with a speech impediment, developmental delay, short stature, and facial anomalies consistent with the Floating-Harbor syndrome (FHS). In addition, she has clinical and histological evidence of celiac disease, which was observed in 1 of the 6 previously reported cases of FHS, suggesting a possible association between the 2 conditions or pleiotropism of a presumed autosomal recessive disorder.
authors.affiliation: Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
authors.forename: A E
authors.initials: AE
authors.lastname: Chudley
authors.forename: S P
authors.initials: SP
authors.lastname: Moroz
mesh_terms: D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000145:classification / Q000150:complications / Q000235:genetics*; D002446:Celiac Disease / Q000145:classification / Q000150:complications / Q000235:genetics*; D002869:Chromosome Aberrations; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics*