a sndrome de apert  um distrbio raro de herana autossmica dominante causado por mutaes no lcus 10q26 do gene fgfr2 ; pacientes com esta sndrome apresentam sindactilia severa , exoftalmia , hiperteleorbitismo e hipoplasia da face mdia com m ocluso de classe iii , alm de alteraes sistmicas . a maior parte dos estudos disponveis sobre a sndrome de apert aborda o aspecto gentico ou manejo cirrgico , com pouca nfase nos aspectos bucais .
investigar os achados bucais , incluindo anomalias dentrias , irrupo ectpica dos primeiros molares permanentes superiores e alteraes de tecido mole , em indivduos com sndrome de apert .
exame clnico e radiogrfico de nove pacientes com sndrome de apert , de 6 a 15 anos de idade , no anteriormente submetidos a tratamento ortodntico ou ortogntico .
anomalias dentrias estavam presentes em todos os pacientes , com uma a oito anomalias por indivduo .
as anomalias mais freqentes foram agenesia dentria , principalmente afetando os caninos superiores , e opacidades de esmalte ( 44,4% para ambos ) .
foi observada irrupo ectpica dos primeiros molares superiores em 33,3% dos pacientes ; foram observados aumentos volumtricos laterais da mucosa palatina em 88,8% dos pacientes .
a alta prevalncia de anomalias dentrias e irrupo ectpica pode sugerir uma possvel relao etiolgica com a sndrome .
the term craniosynostosis refers to early closure of cranial sutures ; the syndromes most frequently associated with craniosynostoses are the apert and crouzon syndromes , besides pfeiffer , saethre - chotzen , carpenter , jackson - weiss and cloverleaf skull syndromes7 .
the treatment of craniosynostoses is essentially surgical , aiming at esthetic improvement and prevention of neurological alterations .
the apert syndrome10 presents autosomal dominant inheritance assigned to mutations in the fgfr2 gene at locus 10q26 .
patients with this syndrome present severe syndactyly of the 2nd , 3rd and 4th digits , exophthalmia , ocular hypertelorism and hypoplastic midface with class iii malocclusion and systemic alterations10,17 .
investigations reported in the literature on apert syndrome are usually related to genetics or surgical management , with little emphasis on the oral aspects .
therefore , this study investigated the oral findings , including dental anomalies , ectopic eruption of the maxillary permanent first molars and soft tissue alterations , in a series of subjects with apert syndrome .
forty - five patients with apert syndrome are registered in the database of the hospital for rehabilitation of craniofacial anomalies , university of so paulo ( hrac / usp ) .
the study was revised and approved by the institutional review board of hrac / usp .
children aged less than 6 years were not included because of their difficulty in complying with a radiographic examination . besides
, at this age , the tooth buds of premolars may still be absent and develop at a later stage .
individuals previously submitted to orthodontic or orthognathic treatments were also excluded , because they might have undergone serial tooth extraction , which despite the review of all patients ' records could impair the diagnosis of tooth agenesis .
some individuals had died prematurely , received definitive discharge from the hospital , abandoned treatment , and some patients did not attend the hrac / usp during the study period .
this led to this final sample of 9 patients with apert syndrome . a single examiner performed clinical examination of all patients .
caretakers were asked on possible previous tooth extractions or history of neonatal or natal teeth and soft tissue alterations .
dental anomalies were recorded by description of findings , and enamel opacities were classified according to the dde index5 .
dental anomalies were found in all patients , with one to eight anomalies per patient .
overall , 38 tooth abnormalities were observed , being 73.6% in the maxillary arch and 78.9% in permanent teeth .
the dental anomalies observed included enamel projections , long canine cusps , supernumerary teeth , dental fusion ( figure 1 ) , enamel opacity , enamel hypoplasia , tooth agenesis , ectopic tooth positioning ( figure 2 ) and tooth impaction .
enamel opacities ( figure 3 ) were often observed , adding up to 12 opacities in 44.4% of patients , primarily affecting permanent teeth ( 66.6% ) , on the buccal aspect ( 58.3% ) , of creamy - white color ( 100% ) and on the maxillary arch ( 66.6% ) .
eight permanent teeth were congenitally absent in 4 patients ( 44.4% ) , with one to five missing teeth per patient , mainly affecting the maxillary canines ( figure 4 ) ( 50% ) ; maxillary lateral incisors ( 25% ) ; and mandibular canine and mandibular second premolar ( 12.5% each ) .
five cases of ectopic eruption of the maxillary permanent first molars were observed in 3 patients ( 33.3% ) , being 2 bilaterally and 1 on the left side ( figure 5 ) .
soft tissue alterations were observed in 8 patients ( 88.8% ) , all of which represented the typical lateral palatal swellings ( figure 6 ) of patients with apert syndrome . there was no case of association with cleft palate .
r : right , l : left , w : white , cw : creamy - white , mx : maxillary , md : mandibular , ci : central incisor , li : lateral incisor , c : canine , 1stpm : first premolar , 2ndpm : second premolar , 1stm : first molar , 2ndm : second molar
the observation of dental anomalies in all patients in this series and the finding of multiple anomalies in each patient may indicate a possible correlation between apert syndrome and the occurrence of oral alterations , not described in the literature so far .
. the same factor causing maxillary hypoplasia in these patients might give rise to tooth agenesis or enamel hypoplasia .
the prevalence of enamel opacities ( 44.4% ) was higher than reported for individuals without congenital alterations , which ranges from 1.6%9 to 9.3%8 , or for patients with cleft lip and palate ( 27.9%)8 , yet lower than that observed among premature infants and patients with congenital rubella ( 56.5% and 81.8% , respectively)8 . in 2001 ,
mustafa , et al.11 observed similar prevalence of enamel opacities in patients with and without craniosynostosis , yet their sample also included patients with non - syndromic craniosynostosis .
the highest frequency of affected permanent teeth in the present study may have been influenced by the higher number of erupted permanent teeth ( 118 permanent compared to 72 deciduous teeth ) .
the prevalence of tooth agenesis ( 44.4% ) was higher than reported for individuals without syndromes ( range 2.7% to 6.9%)4,12,15 .
the predominance of agenesis of maxillary canines ( 50% ) and a mandibular canine ( 12.5% ) was surprising , since these teeth are usually stable in the general population , accounting for only 1% to 6.2% of all cases of tooth agenesis4,12 .
this may indicate a possible characteristic of apert syndrome not described in the literature so far . however , further studies on larger samples are required to confirm such data .
the other cases of tooth agenesis , namely maxillary lateral incisors and mandibular second premolar , agree with reports for the general population4,12,15 .
the prevalence of ectopic eruption of permanent maxillary first molars ( 33.3% ) was high when compared to patients without congenital alterations ( range 0.75% to 4.3%)2,3 or individuals with cleft lip and palate ( 15.4% to 19.6%)1,13 , being slightly lower than observed among patients with isolated cleft palate ( 20.6% to 28.8%)1,13,14 .
this alteration can be related to maxillary hypoplasia , which may lead to lack of space and consequently to eruption disturbances .
the presence of lateral palatal swellings in 88.8% of the sample is concordant with similar reports ; the lack of association with cleft palate is in agreement with the literature , which assigns such reports to mistaken diagnoses due to the aspect caused by the lateral palatal swellings10,17 .
the typical palatal morphology of these patients is related to the maxillary hypoplasia observed in this syndrome .
this hypoplasia leads to compression of the dental arch , which then becomes v - shaped , giving rise to irregular tooth positioning and thickening of the alveolar ridge .
this process is partially responsible for the typical palatal morphology , but there is also hyperplasia of the palatal mucosa , which increases with age .
this hyperplasia is formed by soft tissue and is primarily composed of deposits of acid mucopolysaccharides ( mps ) , not found in biopsies of other structures of these patients , as skin or organs .
ferraro6 ( 1991 ) reported that these lateral palatal swellings might lead to food impaction in the central groove in the palate .
considering this high rate of oral alterations , patients with apert syndrome may have large dental needs ; thus , dental professionals should be well informed on the oral aspects of these individuals , to be able to provide thorough information to patients and parents .
knowledge on the oral disturbances present in this syndrome is fundamental to establish a treatment plan adequate to their needs .
the frequent occurrence of dental anomalies , ectopic eruption and soft tissue alterations observed in this series of patients with apert syndrome suggests a possible relationship between these disturbances and the syndrome .
 introduction : the apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the fgfr2 gene at locus 10q26 ; patients with this syndrome present severe syndactyly , exophthalmia , ocular hypertelorism and hypoplastic midface with class iii malocclusion , besides systemic alterations . 
 most investigations available on the apert syndrome address the genetic aspect or surgical management , with little emphasis on the oral aspects.objective:to investigate the oral findings , including dental anomalies , ectopic eruption of the maxillary permanent first molars and soft tissue alterations , in subjects with apert syndrome.material and methods : clinical and radiographic examination of nine patients with apert syndrome , aged 6 to 15 years , not previously submitted to orthodontic or orthognathic treatment.results:dental anomalies were present in all patients , with one to eight anomalies per individual . 
 the most frequent anomalies were tooth agenesis , mainly affecting maxillary canines , and enamel opacities ( 44.4% for both ) . 
 ectopic eruption of maxillary first molars was found in 33.3% of patients ; lateral palatal swellings were observed in 88.8% of patients.conclusions:the occurrence of typical lateral palatal swellings agrees with the literature . 
 the high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome . 
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Objetivo:
Material e mtodos:
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INTRODUCTION
MATERIALS AND METHODS
RESULTS
DISCUSSION
CONCLUSIONS