INTRODUCTION: The @entity7440 occurs due to the presence of an extra chromosome 18 in most cases. The prevalence in @entity1 is estimated at 1:6000 to 1:8000. Those affected have a high mortality rate, only 4% may survive their first year of life. There are few reported cases exceeding five years of age. OBJECTIVE: The aim of this paper is to report a case of trisomy 18 of long survival with oral cavity features not described in the literature, and to provide information to physicians and paediatricians about aetiology, phenotype, survival and genetic counselling. CASE REPORT: A 7 year-old female @entity1 with 2 karyotypes performed by lymphocyte culture showing 47XX+18 in all metaphases. She presented with @entity851 , @entity4238 , severe @entity1155 and @entity73 , inability to feed, lack of verbal language, @entity1274 , @entity2055 , @entity15405 , and genitals with hypoplastic labia majora and minora. In the oral cavity: dome shaped palate, @entity11124 , absence of upper central incisors and first upper and lower molars in mouth. X-ray findings showed formation of missing teeth, with late eruption being concluded. CONCLUSIONS: In cases of @entity7440 there is an increased risk of neonatal and @entity1 mortality. The clinical characteristics in utero and in neonates have been well described. Since few cases exceeding five years of age have been reported, the phenotype is yet to be established. In the case being reported we describe oral cavity findings not documented in the literature.

[ XXXX : A case report].

@entity1 :: ('9606', 'Species') :: ['patient', 'infants', 'infant'] @entity851 :: ('MESH:D006130', 'Disease') :: ['growth deficiency'] @entity4238 :: ('MESH:D057215', 'Disease') :: ['dysmorphic facies'] @entity73 :: ('MESH:D003072', 'Disease') :: ['cognitive disability'] @entity15405 :: ('MESH:C562568', 'Disease') :: ['cerebellar hypoplasia'] @entity1274 :: ('MESH:D006319', 'Disease') :: ['sensorineural hearing loss'] @entity1155 :: ('MESH:D011596', 'Disease') :: ['psychomotor retardation'] @entity11124 :: ('MESH:D008260', 'Disease') :: ['macroglossia'] @entity7440 :: ('MESH:C580500', 'Disease') :: ['trisomy 18 syndrome'] @entity2055 :: ('MESH:D001259', 'Disease') :: ['ataxia']
@entity7440 :: (MESH:C580500,Disease) :: ['Trisomy 18 syndrome']
