[The functional and surgical rehabilitative treatment of cleft lip and cleft palate in a case of the syndrome of the deletion of the long arm of chromosome 18 diagnosed in utero].
Following an introductory illustration of the clinical characteristics of the 18q syndrome (De Grouchy syndrome), the paper describes the treatment carried out in a young patient with harelip and cleft palate in addition to chromosomopathy. Although the facial malformation and the karyotype with the deletion of a portion of the long arm of chromosome 18 were diagnosed in utero, the parents, having been correctly informed of the mental retardation usually associated with this syndrome and the possibility of surgical correction of the facial malformation, decided not to abort. The case offers an occasion for analysing the various stages and results obtained to date using a multi-specialised diagnostic approach and functional and surgical treatment of the harelip and cleft palate which have enabled much of the congenital handicap to be corrected.
Casseler
F
F
Divisione di Chirurgia Maxillo-Facciale ed Odontostomatologia, Istituto per l'Infanzia di Trieste.
Radovich
F
F
Guidetti
F
F
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000534:rehabilitation*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000534:rehabilitation*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D002971:Cleft Lip / Q000175:diagnosis / Q000534:rehabilitation*; D002972:Cleft Palate / Q000175:diagnosis / Q000534:rehabilitation*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome
Trattamento riabilitativo funzionale e chirurgico della labiopalatoschisi in un caso di sindrome da delezione del braccio lungo del cromosoma 18 diagnosticata in utero.