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


METHODS
- 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.


METHODS
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.
Chair of Department of Phoniatrics and Audiology, Poznań University of Medical Sciences, Poznań, Poland.
Antoni
A
Pruszewicz
Chair of Department of Phoniatrics and Audiology, Poznań University of Medical Sciences, Poznań, Poland.
Bożena
B
Wiskirska-Woźnica
Chair of Department of Phoniatrics and Audiology, Poznań University of Medical Sciences, Poznań, Poland.
Waldemar
W
Wojnowski
Chair of Department of Phoniatrics and Audiology, Poznań University of Medical Sciences, Poznań, Poland.
Hanna
H
Czerniejewska
Chair of Department of Phoniatrics and Audiology, Poznań University of Medical Sciences, Poznań, Poland.
Joanna
J
Jackowska
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.
Małgorzata
M
Jarmuż
Institute of Human Genetics, Polish Academy of Science, Poznań, Poland ; Chair of Department of Otolaryngology, Poznań University of Medical Sciences, Poznań, Poland.
Krzysztof
K
Szyfter
Chair of Department of Otolaryngology, Poznań University of Medical Sciences, Poznań, Poland.
Małgorzata
M
Leszczyńska
Communication Disorders; phenotype-genotype discordance; trisomy 18 (Edwards syndrome)