Short Rib Syndrome with Polydactyly
Syndróm krátkych rebier s polydaktýliou.Asfyktická torakodysplázia
U novorodenca na podklade špecifických zmien na kostiach bol diagnostikovaný Jeuneov syndróm bez spojenias nadmerným počtom prstov. Pacient mal ľahké príznaky dychovej tiesne, ktorá neprogredovala. Klinickéa laboratórne vyšetrenia nezachytili výsledky svedčiace pre porušenú funkciu obličiek, pečene a podžalúdkovejžľazy. Doplňujúce nálezy vylúčili iné syndrómy v skupine krátkych rebier s polydaktýliou.
Klíčová slova:
Jeunův syndrom, kostné zmeny, nadmerný počet prstov
Authors:
Š. Rosipal; A. Antalíková; L. Beniaková
Authors‘ workplace:
Detské oddelenie, NsP v Poprade, primár MUDr. Š. Rosipal
Published in:
Čes-slov Pediat 1999; (5): 205-207.
Category:
Overview
Based on specific changes on bones the authors diagnosed in a neonate Jeune’s syndrome without supernume-rary fingers. The patient had mild symptoms of respiratory stress which did not progress. Clinical and laboratoryexaminations did not record results suggesting impaired function of the kidneys, liver or pancreas. Supplementaryfinding ruled out other syndromes from the short rib group with polydactyly.
Key words:
Jeune’s syndrome, change on bones, supernumerary fingers
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
1999 Issue 5
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