Home > Journals > Gazzetta Medica Italiana Archivio per le Scienze Mediche > Past Issues > Gazzetta Medica Italiana Archivio per le Scienze Mediche 2000 February;159(1) > Gazzetta Medica Italiana Archivio per le Scienze Mediche 2000 February;159(1):1-9

CURRENT ISSUE
 

JOURNAL TOOLS

Publishing options
eTOC
To subscribe
Submit an article
Recommend to your librarian
 

ARTICLE TOOLS

Reprints
Permissions
Share

 

REVIEWS   

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

Copyright © 2000 EDIZIONI MINERVA MEDICA

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


PDF


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.

top of page