Halal F, Silver K
Department of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.
Am J Med Genet. 1989 Jun;33(2):182-5. doi: 10.1002/ajmg.1320330209.
We report on an 8 1/2-year-old boy with slowly progressive macrocephaly, psychomotor retardation, multiple subcutaneous angiolipomas, hypertelorism, exotropia, prolonged drooling, cutis marmorata, telangiectasia, congenital heart defect, broad thumbs and great toes, and muscle wasting. The syndrome is similar to the Bannayan-Zonana syndrome and seems to be inherited as an autosomal dominant trait. The father has partial manifestations of the syndrome.
我们报告了一名8岁半的男孩,患有缓慢进展的巨头畸形、精神运动发育迟缓、多发性皮下血管脂肪瘤、眼距过宽、外斜视、流涎延长、大理石样皮肤、毛细血管扩张、先天性心脏缺陷、拇指和大脚趾宽大以及肌肉萎缩。该综合征与班纳扬-佐纳纳综合征相似,似乎以常染色体显性性状遗传。父亲有该综合征的部分表现。