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 place of work:
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 the journal:
Čes-slov Pediat 2005; 60 (1): 32-35.
Category:
Case Report
Summary
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
Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2005 Číslo 1
- What Effect Can Be Expected from Limosilactobacillus reuteri in Mucositis and Peri-Implantitis?
- The Importance of Limosilactobacillus reuteri in Administration to Diabetics with Gingivitis
Najčítanejšie v tomto čísle
- Sad Facies, Spinal Malsegmentation, Progressive Vicious Kyphoscoliosis, Multiple Wormian Bones, Basilar Impression – A Novel Syndrome. Report of Two Sisters
- Genetic Polymorphisms of UGT 1A1*28 in the TATA-box Promoter Region of Bilirubin Uridinediphosphate-glucuronosyltransferase Gene in Children with Gilbert’s Syndrome
- Vascular Anomalies in Children – a New Classification System, Natural History and Treatment
- Unique Pattern Syndrome of Distinctive Facies, Short Stature, Kyphoscoliosis, Craniosynostosis, Hyperlaxity and Dyslexia