Floating-Harbor syndrome. A neuropsychological approach.
We describe a six year old Mexican girl whose clinical picture (short stature with delayed bone age, language difficulties and triangular face with prominent nose) was compatible with the diagnosis of Floating-Harbor Syndrome (FHS). A neuropsychological evaluation disclosed a mild mental retardation, a constructive apraxia, a comprehensive and expressive language impairment. The analysis of the present case and sixteen patients previously described establishes that the FHS is mainly characterized by proportionate short stature with significantly delayed bone age, delayed expressive language and peculiar face.
Davalos
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IP
División de Genética, C.M.N.O. Instituto Mexicano del Seguro Social. Guadalajara Jalisco, México.
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Bobadilla
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Martinez-Martinez
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Bañuelos
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Ramirez-Dueñas
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D000365:Age Determination by Skeleton; D001072:Apraxias / Q000150:complications*; D001824:Body Constitution; D002648:Child; D019465:Craniofacial Abnormalities / Q000150:complications*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis*; D007806:Language Disorders / Q000150:complications*; D009483:Neuropsychological Tests; D013064:Speech Disorders / Q000150:complications*; D013577:Syndrome