Robinow M, Johanson A J, Smith T H
J Pediatr. 1977 Sep;91(3):417-21. doi: 10.1016/s0022-3476(77)81311-5.
A distinct syndrome is delineated on the basis of two previously reported and one newly described case. The syndrome combines multiple congenital anomalies with a progressive skeletal dysplasia-dysostosis, The gradual evolution of the skeletal disorder is demonstrated in the present patient. It will now be possible to diagnose this syndrome at birth.
根据之前报道的两例及新描述的一例病例，确定了一种独特的综合征。该综合征将多种先天性异常与进行性骨骼发育不良-骨发育不全相结合。本患者展示了骨骼疾病的逐渐演变过程。现在有可能在出生时诊断出这种综合征。
