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Sad Facies, Spinal Malsegmentation, Progressive Vicious Kyphoscoliosis, Multiple Wormian Bones, Basilar Impression – A Novel Syndrome. Report of Two Sisters


Authors: A. Al Kaissi 1;  M. B. Ghachem 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): 28-31.
Category: Case Report

Overview

The authors report two sisters with distinct, sad facial appearance, and unique pattern of radiographic abnormalities. The latter consisted of extensive malsegmentation of the spine with vicious, progressive kyphoscoliosis, mid-facial hypoplasia, prominent occiput with multiple Wormian bones along the lambdoid suture, and severe basilar impression. The females present a novel distinct syndromic association.

Key words:
spinal malsegmentation, spinal bar, kyphoscoliosis, Wormian bones, basilar impression


Labels
Neonatology Paediatrics General practitioner for children and adolescents
Topics Journals
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