Hernández A, Aguirre-Negrete M G, Ramírez-Soltero S, González-Mendoza A, Martínez y Martínez R, Velázquez-Cabrera A, Cantú J M
Clin Genet. 1979 Nov;16(5):335-9. doi: 10.1111/j.1399-0004.1979.tb01012.x.
Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers-Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded. Increased paternal age at the birth of both cases suggests a de novo dominant mutation.
两名无血缘关系的男性表现出一种独特的综合征，主要包括智力发育迟缓、身材矮小、面部皱纹、卷曲且细软的毛发、眉毛和睫毛稀少、内眦间距增宽、牙周炎、关节活动过度、皮肤过度伸展和脆弱、多发性痣、纸样瘢痕、易瘀斑、静脉曲张、漏斗胸、翼状肩胛、扁平足和双侧隐睾。由于某些特征是埃勒斯-丹洛斯综合征（EDS）的典型表现，因此对临床数据与不同类型的EDS进行了比较分析。得出了一种独特变异型的个体化结论。两例患者出生时父亲年龄增大提示存在新发显性突变。
