Dubosson J D, Schneider P
J Genet Hum. 1978 Dec;26(4):351-65.
The authors described a one-month-old baby girl showing a zone of cutaneous aplasia of the vertex; she presented, in addition, an extensive interventricular communication. A family study enabled them to ascertain that her three-year-old brother had a scarred alopecial area starting at the bregmatic region and continuing backwards along the median line; the six-year-old sister also had a scar on the vertex. Neither parent had any anomaly of the scalp. It would appear that circumscribed cutaneous aplasias generally result from a localised developmental defect, the exact mechanism of which remains unexplained. Circumscribed cutaneous aplasia which is sporadic and isolated in the majority of cases of trisomy 13) can, however, be transmitted as a mendelian trait, usually dominant. In the family under study, the absence of any lesion in the parents and the very small distance separating the two communes from which they originated rather favour a recessive autosomal mode of heredity.
作者描述了一名1个月大的女婴，其头顶有皮肤发育不全区域；此外，她还存在广泛的室间隔交通。一项家族研究使他们确定，她3岁的哥哥有一个瘢痕性脱发区域，起始于前囟区域并沿中线向后延伸；6岁的姐姐头顶也有瘢痕。父母双方头皮均无异常。局限性皮肤发育不全似乎通常是由局部发育缺陷导致的，其确切机制尚不清楚。局限性皮肤发育不全在大多数13三体综合征病例中是散发性和孤立性的，然而，它可以作为孟德尔性状遗传，通常为显性遗传。在所研究的家族中，父母均无任何病变，且他们来自的两个社区距离很近，这更倾向于隐性常染色体遗传模式。
