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A Journal on Internal Medicine and Pharmacology

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Gazzetta Medica Italiana Archivio per le Scienze Mediche 2000 February;159(1):1-9

language: Italian

Clinical find­ings in mal­for­ma­tion syn­dromes. Note 1: so­mat­ic as­pects

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

Università degli Studi - Siena, Scuola di Specializzazione in Ortognatodonzia


Rarely the di­ag­no­sis of a cra­ni­o­fa­cial mal­for­ma­tion can be ­made at the mo­ment of the vis­it: the sit­u­a­tions ­where ap­par­ent­ly nor­mal in­di­vid­u­als as a mat­ter of ­fact are di­ag­nosed as hav­ing in­com­plete ­forms of mal­for­ma­tion syn­dromes are fre­quent. Therefore, the ob­ser­va­tion of ­small chang­es ­from nor­mal can be use­ful for the di­ag­no­sis lead­ing to non-ev­i­dent mal­for­ma­tion ­forms. In ­this re­gard, the ob­jec­tive ex­am­ina­tion ­plays a fun­da­men­tal ­role in plan­ning a cor­rect di­ag­no­sis and ther­a­py. This ­paper de­scribes the dif­fer­ent clin­i­cal find­ings ob­served in pa­tients di­ag­nosed as hav­ing cran­i­os­y­nos­to­sis syn­dromes and mal­for­ma­tions of the ­first and the sec­ond bran­chi­al ­arch: in par­tic­u­lar, cal­var­i­al and ex­trem­ity (­hands and ­feet) de­for­mities and pos­sible cu­ta­ne­ous anom­a­lies and ab­er­ra­tions of pi­lif­er­ous ­growth. The im­por­tance of the re­search not on­ly of the ­maior anom­a­lies, but al­so of the mi­nor anom­a­lies as di­ag­nos­tic ­aids for mal­for­ma­tion syn­dromes, is em­pha­sized; the non-spec­i­fic­ity of in­di­vid­u­al al­ter­a­tion is al­so under­lined, ­since dis­or­ders ­that are etio­logi­cal­ly het­er­o­ge­ne­ous may ­show sim­i­lar phe­no­types, and, con­se­quent­ly, the ne­ces­sity of find­ing as­so­ciat­ed mal­for­ma­tions to ­make a cor­rect di­ag­no­sis. When the syn­drome is iden­ti­fied, it ­will be pos­sible fore­see its clin­i­cal ev­o­lu­tion and, ­then, the ther­a­py. In ­this con­nec­tion, the knowl­edge of the dif­fer­ent clin­i­cal pic­tures is im­por­tant as ­well as the col­lab­o­ra­tion ­among dif­fer­ent spe­cial­ists, in or­der to im­prove the ­patients’clinical con­di­tions.

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