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

Download PDF Czech version

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

Experience in the Monitoring of Maternal and Neonatal Iodine Supply in the Czech Republic

Genetic Polymorphisms of UGT 1A1*28 in the TATA-box Promoter Region of Bilirubin Uridinediphosphate-glucuronosyltransferase Gene in Children with Gilbert’s Syndrome

Prognosis of Idiopathic Pulmonary Hemosiderosis at the Child Age

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

Article was published in

Czech-Slovak Pediatrics

2005 Issue 1