Pediatr. praxi. 2015;16(4):264-266

Campomelic dysplasia

MUDr.Kateřina Bendová1, MUDr.Renáta Poláčková1,2, MUDr.Andrea Gřegořová3,4, MUDr.Eva Šilhánová3,4
1 Oddělení neonatologie FN Ostrava
2 Katedra interních oborů, LF OU v Ostravě
3 Oddělení lékařské genetiky FN Ostrava
4 Katedra vyšetřovacích metod, LF OU v Ostravě

The authors report their own experience with a disorder caused by mutation in the SOX9 gene in two case reports. This genetic disorder

causes anomalies of the reproductive systém and skeletal system with a small thoracic cavity and respiratory insufficiency.

Keywords: campomelic dysplasia, SOX9 gene mutation

Published: September 20, 2015  Show citation

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Bendová K, Poláčková R, Gřegořová A, Šilhánová E. Campomelic dysplasia. Pediatr. praxi. 2015;16(4):264-266.
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    References

    1. Maroteaux P, spranger JW, Opitz JM, Kucera J, Lowry RB, Schimke RN, et al. The camomelic syndrome. Press Med 1971; 22: 1157-1162.
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    4. Massardier J, Roth P, Michel-Calemard L, Rudigoz RC, Bouvier R, Dijoud F, Arnould P, Comboureu D, Gaucherand P. Campomelic Dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. Fetal Diagn Ther 2008; 24: 452-457. Go to original source... Go to PubMed...
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