小头畸形与先天性淋巴水肿的显性遗传综合征。

Clin Genet. 1985 Jun;27(6):611-2. doi: 10.1111/j.1399-0004.1985.tb02047.x.

A Chinese family is reported in which microcephaly and congenital lymphedema have been observed in at least 4 generations. This combination of symptoms can be presumed to represent a rare but well defined hereditary syndrome transmitted by an autosomal dominant gene.

据报道，一个中国家庭中至少四代人出现了小头畸形和先天性淋巴水肿。可以推测，这种症状组合代表了一种罕见但定义明确的由常染色体显性基因传递的遗传综合征。