Heckmann U
Geburtshilfe Frauenheilkd. 1982 Apr;42(4):318-20. doi: 10.1055/s-2008-1036770.
A 23 year-old primigravida with bilateral congenital amastia was delivered at 38 weeks gestation following early rupture of the membranes. The mature newborn female also showed congenital bilateral amastia. In addition mother and daughter showed a mild hook finger of both 5th fingers. The mother only had 19 permanent teeth. About the permanent in the infant no data were obtained. This type of manifestation of a congenital anhydrotic ectodermal dysplasia is probably due to a sex-linked recessive gene. Newer investigations in experimental embryology show that the complete inhibition of the growth of the ectodermal milkridge occurs in the 6-12 th week of intra-uterine life and may also occur as an embryopathy due to dehydroepiandrosterone.
一名23岁初产妇,双侧先天性无乳房,孕38周时胎膜早破后分娩。成熟的女婴也表现为先天性双侧无乳房。此外,母女均有轻度的双侧第5指钩状指。母亲仅有19颗恒牙。关于婴儿恒牙情况未获取到相关数据。这种先天性无汗性外胚层发育不良的表现类型可能归因于X连锁隐性基因。实验胚胎学的最新研究表明,外胚层乳嵴生长的完全抑制发生在子宫内生命的第6至12周,也可能作为一种胚胎病由于脱氢表雄酮而发生。