Voron D A, Hatfield H H, Kalkhoff R K
Am J Med. 1976 Mar;60(3):447-56. doi: 10.1016/0002-9343(76)90764-6.
The multiple lentigines syndrome is reviewed and a new case is presented. The major features of this syndrome are lentigines and other cutaneous abnormalities, cardiac defects, meurologic defects, cephalofacila dysmorphism, shortness of stature, skeletal anomalies, genitourinary abnormalities, and a family history consistent with an autosomal dominant mode of inheritance. The multiple lentigines syndrome manifests markedly variable expressivity; no single finding is pathognomonic and few patients have all major features. We propose specific criteria for diagnosis.
对多发性雀斑样痣综合征进行了综述并报告了1例新病例。该综合征的主要特征为雀斑样痣及其他皮肤异常、心脏缺陷、神经缺陷、头面部畸形、身材矮小、骨骼异常、泌尿生殖系统异常，以及符合常染色体显性遗传方式的家族史。多发性雀斑样痣综合征表现出明显的可变表达性；没有单一发现具有诊断意义，很少有患者具备所有主要特征。我们提出了具体的诊断标准。
