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23 January 2014

Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)

Antoni PruszewiczABCDEFG, Bożena Wiskirska - WoźnicaABCDEFG, Waldemar WojnowskiABCDEFG, Hanna CzerniejewskaABCDEFG, Joanna JackowskaABCDEFG, Małgorzata JarmużABCDEFG, Krzysztof SzyfterABCDEFG, Małgorzata LeszczyńskaABCDEFG

DOI: 10.12659/AJCR.884033

Am J Case Rep 2014; 15:41-44

Abstract

Abstract
Background: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence.
Case Report: We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX).
Conclusions: Disturbed articulation was diagnosed: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /ś/, /ź/, /ć/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed.

Keywords: trisomy 18 (Edwards syndrome), phenotype-genotype discordance, Communication Disorders

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923