Kelley R I, Borns P F, Nichols D, Zackai E H
J Med Genet. 1983 Dec;20(6):436-40. doi: 10.1136/jmg.20.6.436.
A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.
本文报告了一对父子，他们均患有伴有严重颅面畸形的骨骼发育不良，并与之前描述的三例相同侏儒症的孤立病例进行了比较。主要特征为颅缝早闭、多个透亮的干骺端缺损、椎体扁平及前缘喙突形成，以及牙列异常。提示为常染色体显性遗传。
