title: Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome.
abstract: The Floating Harbor syndrome is a rare genetic disease characterized by a triad of clinical signs: specific dysmorphic facial features, short stature with delayed bone age, and language and speech disorders. These signs are, in most cases, associated with borderline normal intelligence to moderate delay concerning intellectual functioning. We report an extensive neuropsychological evaluation for an adult female patient and show, in particular, a severe visuospatial impairment. We discuss this deficit in the light of the previous reported cases and suggest that visuospatial abilities should be explored more systematically.
authors.affiliation: Service de Neurologie, Centre Hospitalier Universitaire de Rouen, Rouen, France.
authors.forename: D
authors.initials: D
authors.lastname: Pouliquen
authors.forename: A
authors.initials: A
authors.lastname: Goldenberg
authors.forename: D
authors.initials: D
authors.lastname: Hannequin
authors.forename: C
authors.initials: C
authors.lastname: Lecointre
authors.forename: J
authors.initials: J
authors.lastname: Lechevallier
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: O
authors.initials: O
authors.lastname: Martinaud
mesh_terms: D000015:Abnormalities, Multiple / Q000523:psychology; D000328:Adult; D001288:Attention / Q000502:physiology; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology*; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000523:psychology; D056344:Executive Function / Q000502:physiology; D005260:Female; D006130:Growth Disorders / Q000150:complications* / Q000523:psychology; D006345:Heart Septal Defects, Ventricular / Q000150:complications* / Q000523:psychology; D006801:Humans; D007360:Intelligence; D007806:Language Disorders / Q000175:diagnosis / Q000209:etiology; D008568:Memory / Q000502:physiology; D019964:Mood Disorders / Q000209:etiology; D009483:Neuropsychological Tests; D010551:Personality; D013028:Space Perception / Q000502:physiology