Ontology highlight
ABSTRACT:
SUBMITTER: Al Kaissi A
PROVIDER: S-EPMC6631815 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Al Kaissi Ali A Shboul Mohammad M Kenis Vladimir V Grill Franz F Ganger Rudolf R Kircher Susanne Gerit SG
Medicines (Basel, Switzerland) 20190529 2
<b>Background:</b> 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. <b>Methods:</b> We describe two female patients with LWD. Their prime clinical complaints were severe bouts of migraine and antalgic gait. <b>Results:</b> Interestingly, via a 3D reconstruction CT scan we encountered several major anomalies. Notable features of craniosynostosis through p ...[more]