title: Floating-Harbor Syndrome:  report on a case in a mother and daughter, further evidence of autosomal dominant inheritance.
abstract: Floating-Harbor Syndrome is a growth retardation syndrome with delayed bone age, typical facial features, and retarded speech development of unknown etiology. Very few familial cases have been reported. We report on the fourth case in a mother and daughter, suggesting autosomal dominant inheritance.
authors.affiliation: Département de Génétique et Cytogénétique et Centre de référence 'déficiences intellectuelles de causes rares', Groupe Hospitalier Pitié-Salpêtrière Service de Gastro Entérologie et Nutrition Pédiatriques, Hôpital d'Enfants Armand Trousseau Explorations Fonctionnelles Endocriniennes, Hôpital d'Enfants Armand Trousseau, APHP, Paris Hôpital Bretonneau, Centre Olympe de Gouges, Service de Génétique et centre de référence 'anomalies du développement et syndromes malformatifs', CHRU de Tours Université François Rabelais, Tours, France.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Arpin
authors.forename: Alexandra
authors.initials: A
authors.lastname: Afenjar
authors.forename: Béatrice
authors.initials: B
authors.lastname: Dubern
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Sylvie
authors.initials: S
authors.lastname: Cabrol
authors.forename: Delphine
authors.initials: D
authors.lastname: Héron
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D019066:Facies; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006130:Growth Disorders / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007805:Language Development Disorders / Q000235:genetics