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Gazzetta Medica Italiana Archivio per le Scienze Mediche 2000 February;159(1):11-21

Copyright © 2000 EDIZIONI MINERVA MEDICA

language: Italian

Clinical findings in malformation syndromes. Note 2. Oro-facial aspects

Guido E., Mascagni E., Nannelli P., Del Grosso M.

Università degli Studi - Siena, Scuola di Specializzazione in Ortognatodonzia


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Maxillo-fa­cial anom­a­lies ap­pear to be re­mark­able in ­some ­rare mal­for­ma­tion syn­dromes (cran­i­os­y­nos­to­sis syn­dromes and mal­for­ma­tions of the ­first and the sec­ond bran­chi­al ­arch). However, the ex­treme var­i­abil­ity of the ­patient’s clin­i­cal phe­no­type com­pli­cates the di­ag­no­sis. Consequently, the ob­jec­tive ex­am­ina­tion ­plays a fun­da­men­tal ­role: it is nec­es­sary to per­fom a care­ful eval­u­a­tion of the pa­tients, go­ing be­yond a mere­ly or­tho­don­tic inter­est and in­clud­ing al­so the eval­u­a­tion of the fa­cial ar­ea, ­which is not ab­so­lute­ly pos­sible to ­leave out in or­der to ­make a cor­rect di­ag­no­sis and ­plan the treat­ment. This lit­er­a­ture sur­vey has the aim to sup­ply the den­tist and, in par­tic­u­lar, the or­tho­don­tist ­with a rap­id and ­easy con­sul­ta­tion ­guide on the ­main clin­i­cal find­ings ob­served in the mal­for­ma­tion syn­dromes ex­am­ined. Then, the anom­a­lies af­fect­ing the dif­fer­ent ­parts of the ­face (­eyes, ­nose, cheek­bones, ­ears, ­upper jaw, low­er jaw, ­mouth) and the mech­a­nisms ­that ­have ­caused ­them are de­scribed ; the im­por­tance of the re­search of the mi­nor anom­a­lies as ­signs to sin­gle out ­more se­ri­ous con­di­tions and to rec­og­nize mal­for­ma­tion syn­dromes is em­pha­sized. Moreover, the con­cept of the non-spe­cif­ity of the in­di­vid­u­al al­ter­a­tion is under­lined ­since the ­same de­fect can ap­pear in dif­fer­ent syn­dromes. From ­this ­study the ­orthodontist’s ­role emerg­es: it ­does not con­sist on­ly in mak­ing a di­ag­no­sis of the dis­ease but al­so in rec­og­niz­ing the ­small chang­es ­from nor­mal, ­which some­times, if not ­well ap­pre­ciat­ed, can ­make or­tho­don­tic ther­a­py use­less.

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