Unique Pattern Syndrome of Distinctive Facies, Short Stature, Kyphoscoliosis, Craniosynostosis, Hyperlaxity and Dyslexia
Unikátní sdružený syndrom odlišných tváří, krátké postavy, kyfoskoliózy, kraniosynostózy, hypermobility kloubů a dyslexie
V klinických studiích bylo identifikováno přinejmenším 100 entit s kraniosynostózou. Autoři studovali rodinu ve čtyřech generacích, které vedle kraniosynostózy měly navíc výrazně odlišné obličeje, krátké postavy s progresivní kyfoskoliózou, nadměrnou mobilitou kloubů a dyslexii. Tato rodina má zřetelně unikátní strukturní syndrom.
Klíčová slova:
kraniosynostóza, krátká postava, kyfoskolióza, dyslexie
Authors:
A. Al Kaissi 1; M. B. Ghachem 1; N. Nassib 1; F. B. Chehida 2; K. Kozlowski 3
Authors‘ workplace:
Service d’Orthopedie Infantile, Hopital d’Enfants, Tunis, Tunesie
1; Centre de Radiologie Ibn Zahr, Tunis, Tunesie
2; The Children’s Hospital, Westmead, Sydney, Australia
3
Published in:
Čes-slov Pediat 2005; 60 (1): 32-35.
Category:
Case Report
Overview
At least 100 entities with craniosynostosis have been identified in clinical studies. Authors studied a family of four generations which additionally to craniosynostosis presented with distinctive facial appearances, short stature due to progressive kyphoscoliosis, hyperlaxity, and dyslexia. This family appears to have a unique pattern syndrome.
Key words:
craniosynostosis, short stature, kyphoscoliosis, dyslexia
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2005 Issue 1
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