Sad Facies, Spinal Malsegmentation, Progressive Vicious Kyphoscoliosis, Multiple Wormian Bones, Basilar Impression – A Novel Syndrome. Report of Two Sisters
Smutný obličej, páteřní malsegmentace, pokročilá defektní kyfoskolióza, mnohočetné ossa suturalia, bazilární imprese – nový syndrom. Zpráva o dvou sestrách
Autoři popisují dvě sestry se zřetelně smutnými obličeji a unikátním souborem rentgenových abnormalit. Ty spočívají v rozsáhlých malsegmentacích páteře s defektní progresivní kyfoskoliózou, středo-obličejovou hypoplazií, prominujícím týlem s mnohočetnými ossa suturalia společně s lambdoidním švem a vážnými bazilárními impressemi.
Obě ženy vykazují nové zřetelné syndromové spojení.
Klíčová slova:
páteřní malsegmentace, páteřní spoj, kyfoskolióza, ossa suturalia, bazilární imprese (invaginace)
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 adolescentsArticle was published in
Czech-Slovak Pediatrics
2005 Issue 1
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