A novel form of ischio-vertebral syndrome

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 diagn...

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Bibliographic Details
Published in:Skeletal radiology 2007, Vol.36 (1), p.77-81
Main Authors: AL KASSI, All, BEN CHEHIDA, Farid, LATOS-BIELENSKA, Anna, GHARBI, Hassan, BEN GHACHEM, Maher, HENDAOUI, Lofti, KOZLOWSKI, Kazimierz
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Bone Diseases, Developmental - diagnostic imaging
Bone Diseases, Developmental - genetics
Bone Diseases, Developmental - pathology
Diseases of the osteoarticular system
Humans
Ischium
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Radiography
Spinal Diseases - diagnostic imaging
Spinal Diseases - genetics
Spinal Diseases - pathology
Syndrome
Traumas. Diseases due to physical agents
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Summary: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.
ISSN:0364-2348
1432-2161
DOI:10.1007/s00256-005-0073-1