Unique Pattern Syndrome of Distinctive Facies, Short
Stature, Kyphoscoliosis, Craniosynostosis, Hyperlaxity and
Dyslexia
Al Kaissi A.1, Ghachem M. B.1, Nassib N.1, Chehida F. B.2, Kozlowski K.3
Service d’Orthopedie Infantile, Hopital d’Enfants, Tunis, Tunesie 1 Centre de Radiologie Ibn Zahr, Tunis, Tunesie The Children’s Hospital, Westmead, Sydney, Australia 3 |
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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
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