![]() ![]() ![]() She presented with growth deficiency, dysmorphic facies, severe psychomotor retardation and cognitive disability, inability to feed, lack of verbal language, sensorineural hearing loss, ataxia, cerebellar hypoplasia, and genitals with hypoplastic labia majora and minora. Case report A 7 year-old female patient with 2 karyotypes performed by lymphocyte culture showing 47XX+18 in all metaphases. 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. ![]() There are few reported cases exceeding five years of age. Those affected have a high mortality rate, only 4% may survive their first year of life. The prevalence in infants is estimated at 1:6000 to 1:8000. Introduction The trisomy 18 syndrome occurs due to the presence of an extra chromosome 18 in most cases. ![]() SALDARRIAGA, Wilmar RENGIFO-MIRANDA, Heidy and RAMIREZ-CHEYNE, Julián. ![]()
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