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Abstract：
We aimed to understand the etiology behind the abnormal craniofacial contour and other clinical presentations in a number of children with Robinow syndrome. Seven children with Robinow syndrome were enrolled in this study (autosomal recessive caused by homozygous mutations in the ROR2 gene on chromosome 9q22, and the autosomal dominant caused by heterozygous mutation in the WNT5A gene on chromosome 3p14). In the autosomal recessive (AR) group, the main clinical presentations were intellectual, disability, poor schooling achievement, episodes of headache/migraine, and poor fine motor coordinative skills, in addition to massive restrictions of the spine biomechanics causing effectively the development of kyposcoliosis and frequent bouts of respiratory infections. Three-dimensional reconstruction computed tomography scan revealed early closure of the metopic and the squamosal sutures of skull bones. Massive spinal malsegmentation and unsegmented spinal bar were noted in the AR group. In addition to severe mesomelia and camptodactyly, in the autosomal dominant (AD) group, no craniosynostosis but few Wormian bones and the spine showed limited malsegemetation, and no mesomelia or camptodactyly have been noted. We wish to stress that little information is available in the literature regarding the exact pathology of the cranial bones, axial, and appendicular malformations in correlation with the variable clinical presentations in patients with the 2 types of Robinow syndrome.
摘要：
我们旨在了解许多Robinow综合征儿童颅面轮廓异常和其他临床表现背后的病因。本研究招募了7名Robinow综合征儿童（染色体9q22上ROR2基因的纯合突变引起的常染色体隐性遗传，染色体3p14上WNT5A基因的杂合突变引起的常染色体显性遗传）。在常染色体隐性遗传（AR）组中，主要临床表现是智力，残疾,学业成绩差，头痛/偏头痛发作，精细的运动协调能力差，除了脊柱生物力学的巨大限制外，还有效地导致了脊柱侧凸的发展和呼吸道感染的频繁发作。三维重建计算机断层扫描扫描显示颅骨的异位和鳞状缝线早期闭合。在AR组中注意到严重的脊柱分割和未分割的脊柱。除了严重的中膜和坎普蒂病，在常染色体显性遗传（AD）组中，没有颅骨融合，但很少有Wormian骨和脊柱表现出有限的错节，没有发现中胚层或camptodactyly。我们想强调的是，文献中关于颅骨确切病理的信息很少，轴向，和阑尾畸形与两种Robinow综合征患者的临床表现相关。
