Cantú J M, Sánchez-Corona J, Hernándes A, Nazará Z, García-Cruz D
Clin Genet. 1982 Oct;22(4):172-9. doi: 10.1111/j.1399-0004.1982.tb01431.x.
The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non-consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.
作者报告了4名无亲缘关系的女孩，她们存在轻度智力缺陷以及一种独特的畸形综合征，主要包括身材矮小、巨头畸形、特殊面容（前额突出、眼距过宽和眼球突出）、心脏异常、皮肤松弛伴掌跖有特征性皱纹、典型肋骨、小椎体和细长的长骨。所有病例均为散发病例，其父母非近亲结婚且生育时年龄较大，提示为新发常染色体显性突变。
