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Unique Pattern Syndrome of Distinctive Facies, Short Stature, Kyphoscoliosis, Craniosynostosis, Hyperlaxity and Dyslexia


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 adolescents
Topics Journals
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