Goldberg R B, Shprintzen R J
J Craniofac Genet Dev Biol. 1981;1(2):185-9.
We describe a brother and sister with microcephaly, hypertelorism, short stature, submucous cleft palate, learning problems, and Hirschsprung aganglionic megacolon (HAM). Literature review failed to show any previous cases combining the above features.
我们描述了一对患有小头畸形、眼距过宽、身材矮小、黏膜下腭裂、学习障碍和先天性无神经节性巨结肠(HAM)的兄妹。文献综述未发现此前有任何病例合并上述特征。