caa a22 4500 445832916 CHVBK 20180317145321.0 cr unu---uuuuu 170323e20111001xx s 000 0 eng 10.1007/s00586-011-1835-1 doi (NATIONALLICENCE)springer-10.1007/s00586-011-1835-1 The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis [Elektronische Daten] [Ali Al Kaissi, Rudolf Ganger, Jochen Hofstaetter, Klaus Klaushofer, Franz Grill] The aim of the article is fourfold; firstly, to detect the aetiology of torticollis in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome; secondly, spine pathology in Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome varies considerably from one patient to another and there are remarkable differences in severity and localization; thirdly, mismanagement of congenital spine pathology is a frequent cause of morbid/fatal outcome; and fourthly, the application of prophylactic surgical treatment to balance the growth of the spine at an early stage is mandatory. Reformatted CT scans helped in exploring the craniocervical and the entire spine in these patients. The reason behind torticollis ranged between aplasia of the posterior arch of the atlas, assimilation of the atlas and extensive fusion of the lower cervical vertebrae (bilateral failure of segmentation) in four patients; in one patient, in addition to the hypoplastic posterior arch of the atlas, we observed ossification of the anterior and the posterior longitudinal spinal ligaments giving rise to a block vertebrae-like suggestive of early senile ankylosing vertebral hyperostosis (Forestier disease). Scoliosis at different spine levels was attributable to variable spine defects. Pelvic ultrasound showed the classical renal agenesis in four patients; whereas in one patient, the MRI showed pelvic cake kidney (renal fused ectopia) associated with ovarian, uterine and vaginal abnormalities. This is the first exploratory study on the craniocervical and the entire spine in a group of patients with MURCS association. Springer-Verlag, 2011 MURCS association nationallicence Torticollis nationallicence Failure of segmentation nationallicence Forestier disease nationallicence Posterior spine ankylosis nationallicence CT scan nationallicence Al Kaissi Ali 4th Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, Hanusch Hospital, Heinrich Collin Str. 30, 1140, Vienna, Austria aut Ganger Rudolf Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria aut Hofstaetter Jochen 4th Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, Hanusch Hospital, Heinrich Collin Str. 30, 1140, Vienna, Austria aut Klaushofer Klaus 4th Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, Hanusch Hospital, Heinrich Collin Str. 30, 1140, Vienna, Austria aut Grill Franz Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria aut European Spine Journal Springer-Verlag 20/10(2011-10-01), 1720-1727 0940-6719 20:10<1720 2011 20 586 https://doi.org/10.1007/s00586-011-1835-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00586-011-1835-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Al Kaissi Ali 4th Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, Hanusch Hospital, Heinrich Collin Str. 30, 1140, Vienna, Austria aut NATIONALLICENCE 700 1- Ganger Rudolf Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria aut NATIONALLICENCE 700 1- Hofstaetter Jochen 4th Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, Hanusch Hospital, Heinrich Collin Str. 30, 1140, Vienna, Austria aut NATIONALLICENCE 700 1- Klaushofer Klaus 4th Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, Hanusch Hospital, Heinrich Collin Str. 30, 1140, Vienna, Austria aut NATIONALLICENCE 700 1- Grill Franz Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria aut NATIONALLICENCE 773 0- European Spine Journal Springer-Verlag 20/10(2011-10-01), 1720-1727 0940-6719 20:10<1720 2011 20 586 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer