Histological Investigation of the Temporal Bone in Foetuseswith Trisomy of the 21st Chromosome
Histologická studie spánkové kostiu plodů s trizomií 21. Chromozomu
Autoři hodnotí histologické nálezy ve světelné mikroskopii u 17 spánkových kostí plodůs geneticky potvrzeným Downovým syndromem (trizomie 21. chromozomu). V oblasti zevního nebostředního ucha byly diagnostikovány změny u 5 (29 %) spánkových kostí, ve vnitřním uchu u 3 (18 %)spánkových kostí.Z patologických nálezů se jednalo o retardaci vývoje, abnormalitu středoušních kůstek a sluchovétrubice. Velice vzácný je nález oboustranné Mondiniho dysplazie hlemýždě u jednoho plodu.Na základě naší studie a nálezů v literatuře nelze určit typické změny sluchově rovnovážnéhoorgánu u nemocných s Downovým syndromem. V klinické praxi je však třeba u těchto jedincůmyslet na možnost postižení sluchu.
Klíčová slova:
spánková kost, histologie, trizomie 21, Downův syndrom.
Authors:
Viktor Chrobok
; E. Šimáková *; V. Jüttnerová **
Authors‘ workplace:
ORL oddělení, Nemocnice Pardubice, přednosta prof. MUDr. A. Pellant, DrSc. Fingerlandův ústav patologie, Fakultní nemocnice Hradec Králové, přednosta prof. MUDr. I. Šteiner, CSc. *Oddělení genetiky, Fakultní nemocnice Hradec Králové, přednosta MUDr. V. Jü
**
Published in:
Otorinolaryngol Foniatr, , 1999, No. 3, pp. 165-167.
Category:
Overview
The authors evaluate histological findings by light microscopy in 17 temporal bonesof foetuses with genetically confirmed Down syndrome (trisomy of the 21st chromosome). In thearea of the external or middle ear changes were diagnosed in five (29 %) temporal bones, in the innerear in three (18 %) temporal bones.As to pathological findings, retardation of development was involved, abnormalities of the ossiclesin the middle ear and of the auditory tube. A very rare finding in one foetus is bilateral Mondinidysplasia of the cochler.Based on the presented investigation and findings in the literature it is not possible to assess typicalchanges of the vestibular organ in patients with Down syndrome. In clinical practice, however, inthese patients possible affection of hearing must be considered.
Key words:
temporal bone, histology, trisomy 21, Down syndrome.
Labels
Audiology Paediatric ENT ENT (Otorhinolaryngology)Article was published in
Otorhinolaryngology and Phoniatrics
1999 Issue 3
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