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 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.
Kaissi
Ali Al
AA
Department of Orthopaedics, Hopital des Enfants Malades, Tunis, Tunesie.
Kassi
Ali Al
AA
Chehida
Farid Ben
FB
Latos-Bielenska
Anna
A
Gharbi
Hassan
H
Ghachem
Maher Ben
MB
Hendaoui
Lofti
L
Kozlowski
Kazimierz
K
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007512:Ischium; D008297:Male; D011859:Radiography; D013122:Spinal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D013577:Syndrome