Kupchik G S, Ludman M D, Raab E L, Gilbert F
Department of Pediatrics, Mount Sinai School of Medicine, New York.
Am J Med Genet. 1992 Jan 1;42(1):1-4. doi: 10.1002/ajmg.1320420102.
We describe a mother and daughter with a distinct phenotype that is different from previous reports. This is likely to constitute a new syndrome for which we propose the mnemonic GMS for G goniodysgenesis, M mental deficiency, and S short stature. The pattern of occurrence is compatible with either autosomal dominant or X-linked inheritance.
我们描述了一位母亲和女儿,她们具有与先前报道不同的独特表型。这可能构成一种新的综合征,我们为此提出了记忆法GMS,代表G前房角发育异常、M智力缺陷和S身材矮小。其发生模式符合常染色体显性遗传或X连锁遗传。