[Diagnosis and logopedic rehabilitation in mandibulofacial dysostosis: a case report].
TCS is hereditary condition transmitted as an autosomal dominant with a high penetrance rate and variable expressivity. Over half the cases derives from new mutations. A pathological gene has been located on the chromosome 5, between locus 31 and 34 of the long arm. The clinical picture is dominated by mandible-facial impairment and by numerous associated deficits, among which a hearing deficit. Therapy requires plurispecialistic intervention, personalized according to each patients condition. The Authors report the case of a three-year-old girl with transmissive deafness and serious language retardation. The child successfully underwent logopedical therapy for three years. The Authors conclude affirming that very young patients with S. Treacher Collins-Franceschetti have a very good chance of being inserted into society furthermore improved by the absence lack of mental deficiency and by spontaneous improvement in physical appearance.
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Sezione di Audiofonologia, A.O. di Avellino.
David
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D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002895:Chromosomes, Human, Pair 5; D004413:Dysostoses / Q000150:complications* / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006311:Hearing Disorders / Q000150:complications; D006801:Humans; D008334:Mandible / Q000503:physiopathology*; D013064:Speech Disorders / Q000150:complications / Q000175:diagnosis / Q000628:therapy*; D013070:Speech Therapy
Diagnosi e riabilitazione logopedica della disostosi mandibolo-facciale: un caso clinico.