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

Antoni Pruszewicz; Bożena Wiskirska-Woźnica; Waldemar Wojnowski; Hanna Czerniejewska; Joanna Jackowska; Małgorzata Jarmuż; Krzysztof Szyfter; Małgorzata Leszczyńska

doi:10.12659/AJCR.884033

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

Am J Case Rep. 2014 Jan 23:15:41-4. doi: 10.12659/AJCR.884033. eCollection 2014.

Authors

Antoni Pruszewicz¹, Bożena Wiskirska-Woźnica¹, Waldemar Wojnowski¹, Hanna Czerniejewska¹, Joanna Jackowska¹, Małgorzata Jarmuż², Krzysztof Szyfter³, Małgorzata Leszczyńska⁴

Affiliations

¹ Chair of Department of Phoniatrics and Audiology, Poznań University of Medical Sciences, Poznań, Poland.
² Institute of Human Genetics, Polish Academy of Science, Poznań, Poland ; Chair of Department of Hematology and Diseases of Hematopoiesis, Poznań University of Medical Sciences, Poznań, Poland.
³ Institute of Human Genetics, Polish Academy of Science, Poznań, Poland ; Chair of Department of Otolaryngology, Poznań University of Medical Sciences, Poznań, Poland.
⁴ Chair of Department of Otolaryngology, Poznań University of Medical Sciences, Poznań, Poland.

Abstract

Patient: Female, 6 FINAL DIAGNOSIS: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: -

Medication: - Clinical Procedure: - Specialty: Otolaryngology.

Objective: Congenital defects.

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: Communication Disorders; phenotype-genotype discordance; trisomy 18 (Edwards syndrome).