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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A novel form of ischio-vertebral syndrome
Skeletal Radiology, Volume 36, No. 1, Year 2007
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Description
We report a boy with ischial hypoplasia, vertebral malsegmentation and multiple other skeletal anomalies which do not fit well with any previously-described disorder. The proband's brother and mother were also slightly affected. We review the pertinent literature, discuss the differential diagnosis and suggest that this may be a previously unreported autosomal dominant disorder, with variable penetrance.We believe that the clinical and radiological features of various syndromes with ischial aplasia/hypoplasia and vertebral malsegmentation are not sufficiently different to justify the current separate categories of "ischio-vertebral dysplasia" and "ischio-spinal dysostosis". We suggest that the term "ischio-vertebral syndrome" should be used until identification of genes affecting ischial and axial morphogenesis is completed. © ISS 2006.
Authors & Co-Authors
Kassi, Ali Al
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
Chéhida, Farid Ben
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
Latos-Bieleńska, Anna M.
Poland, Poznan
Poznan University of Medical Sciences
Gharbi, Hassan
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
Ben Ghachem, Maher
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
Hendaoui, Lofti
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
Kozłowski, Kazimierz S.
Australia, Sydney
The Children's Hospital at Westmead
Statistics
Citations: 7
Authors: 7
Affiliations: 3
Identifiers
Doi:
10.1007/s00256-005-0073-1
ISSN:
03642348
Participants Gender
Male