[Diagnosis and logopedic rehabilitation in mandibulofacial dysostosis: a case report]

Acta Otorhinolaryngol Ital. 1996 Apr;16(2):136-9.
[Article in Italian]

Abstract

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosomes, Human, Pair 5
  • Dysostoses / complications*
  • Dysostoses / genetics
  • Dysostoses / physiopathology*
  • Female
  • Hearing Disorders / complications
  • Humans
  • Mandible / physiopathology*
  • Speech Disorders / complications
  • Speech Disorders / diagnosis
  • Speech Disorders / therapy*
  • Speech Therapy