Al Kaissi Ali, Shboul Mohammad, Kenis Vladimir, Grill Franz, Ganger Rudolf, Kircher Susanne Gerit
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.
Medicines (Basel). 2019 May 29;6(2):60. doi: 10.3390/medicines6020060.
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. We describe two female patients with LWD. Their prime clinical complaints were severe bouts of migraine and antalgic gait. 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. The constellation of observed deformities can be considered as a novel features associated with LWD.
莱里-韦尔软骨发育不全症（LWD）是一种常染色体显性遗传性骨骼发育不良疾病，其特征为颅面表型异常、身材矮小以及上下肢中段短小。我们描述了两名患有LWD的女性患者。她们的主要临床症状是严重的偏头痛发作和止痛步态。有趣的是，通过三维重建CT扫描，我们发现了几个主要异常情况。颅骨缝早闭的显著特征是鳞状缝过早融合和冠状缝部分闭合，这是颅面轮廓异常发展的原因。三维重建CT扫描显示，通过部分融合的冠状缝和完全融合的鳞状缝，锁骨明显隆起。其他畸形包括肋骨数量不足（双侧各10根肋骨）、坐骨骨化缺陷、髂骨-坐骨交界处发育异常以及髋外翻。所观察到的一系列畸形可被视为与LWD相关的新特征。
