Marshall综合征,又称非典型外胚层发育不全,国内报到甚少。1986年8月我科遇到一家3例,经谱系检查,连续3代10人中4人患病,报告如下。先证者:女,21岁,农民。双眼自幼视力障碍,父母非近亲结婚,父亲及弟患类似眼病。祖母已故,据说自幼视力不好。体检:音叉检查任内氏试验阳性,电测听计检查听力损失25分贝。鼻梁低平,愁眉苦脸面容,皮肤干燥。眼部检查:视力右光感(+), Marshall syndrome, also known as atypical ectodermal hypoplasia, reported little domestic. In August 1986, we encountered a family of 3 cases, by pedigree examination, 3 consecutive generations of 10 people in 4, reported as follows. Proof: Female, 21 years old, farmer. Eyes, childhood vision disorders, parents marry non-relatives, father and brother suffering from similar eye disease. Grandmother deceased, it is said that since childhood, poor eyesight. Physical examination: Tunnell test Ren Nei’s test was positive, electrical audiometer check hearing loss 25 dB. Low nose, frown face, dry skin. Eye examination: visual sense of right light (+),