Lowry R B, Yong S L
Department of Paediatrics, University of Calgary, Alberta, Canada.
J Med Genet. 1991 Feb;28(2):135-7. doi: 10.1136/jmg.28.2.135.
We report two brothers of Chinese origin who have an apparently unique syndrome of cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. Additional findings which were not common to both were aberrant digital appendages on the heel and thigh of one boy and an anterior sacral meningocele and dislocated hip in the other. Intelligence is normal in both. Both boys suffer from functional constipation but biopsy studies showed no evidence of Hirschsprung's disease. The parents, who are normal, are not related. Inheritance is probably autosomal or X linked recessive. A possible link with the disorganisation mouse mutant is discussed.
我们报告了两名华裔兄弟，他们患有一种明显独特的综合征，包括唇腭裂、严重的感音神经性耳聋和骶部脂肪瘤。两人不共有的其他表现为，一个男孩的足跟和大腿有异常指状附属物，另一个男孩有骶前脊膜膨出和髋关节脱位。两人智力均正常。两个男孩都患有功能性便秘，但活检研究未发现先天性巨结肠病的证据。父母正常，无血缘关系。遗传方式可能为常染色体或X连锁隐性遗传。文中讨论了与无序小鼠突变体的可能联系。
