Verloove-Vanhorick S P, Brubakk A M, Ruys J H
Acta Paediatr Scand. 1981 Sep;70(5):767-9. doi: 10.1111/j.1651-2227.1981.tb05786.x.
Two sibs with similar and unusual abnormalities (skeletal malformations, cheilognatopalatoschizis, ear dysplasia, heart malformation) are described. The question as to whether these cases represent a previously undescribed recessive syndrome is discussed.
本文描述了两名患有相似且罕见异常(骨骼畸形、唇腭裂、耳部发育异常、心脏畸形)的同胞。文中讨论了这些病例是否代表一种此前未被描述的隐性综合征的问题。