Next Article in Journal
Zebrafish as an Emerging Model for Bioassay-Guided Natural Product Drug Discovery for Neurological Disorders
Previous Article in Journal
Analgesic and Anti-Inflammatory Activities of Quercetin-3-methoxy-4′-glucosyl-7-glucoside Isolated from Indian Medicinal Plant Melothria heterophylla
Open AccessCase Report

Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan

Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna 1140, Austria
Paediatric department, Orthopaedic Hospital of Speising, Vienna 1130, Austria
Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan
Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Parkovaya str., 64–68, Pushkin, Saint Petersburg, Russia
Department of Medical Chemistry, Medical University of Vienna, Vienna 1090, Austria
Author to whom correspondence should be addressed.
Medicines 2019, 6(2), 60;
Received: 17 May 2019 / Revised: 23 May 2019 / Accepted: 27 May 2019 / Published: 29 May 2019
Background: Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal form of skeletal dysplasia, characterized by abnormal craniofacial phenotype, short stature, and mesomelia of the upper and lower limbs. Methods: We describe two female patients with LWD. Their prime clinical complaints were severe bouts of migraine and antalgic gait. Results: Interestingly, via a 3D reconstruction CT scan we encountered several major anomalies. Notable features of craniosynostosis through premature fusion of the squamosal sutures and partial closure of the coronal sutures were the reason behind the development of abnormal craniofacial contour. A 3D reconstruction CT scan showed apparent bulging of the clavarium through the partially synostosed coronal and totally synostosed squamosal sutures. Additional deformities include deficient number of ribs (10 ribs on both sides), defective ossification of the ischium and dysplasia of the iliac-ischial junction, and coxa valga have been noted. Conclusions: The constellation of observed deformities can be considered as a novel features associated with LWD. View Full-Text
Keywords: Leri-Weil dyschondrosteosis; tomography; craniosynostosis; deficient ribs number; ischial dysplasia; coxa valga; SHOX gene Leri-Weil dyschondrosteosis; tomography; craniosynostosis; deficient ribs number; ischial dysplasia; coxa valga; SHOX gene
Show Figures

Figure 1

MDPI and ACS Style

Al Kaissi, A.; Shboul, M.; Kenis, V.; Grill, F.; Ganger, R.; Kircher, S.G. Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan. Medicines 2019, 6, 60.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

Search more from Scilit
Back to TopTop