Goodman R M, Oelsner G, Berkenstadt M, Admon D
Department of Medical Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
J Med Genet. 1988 May;25(5):355-7. doi: 10.1136/jmg.25.5.355.
An 18 year old single Jewish woman with the Waardenburg syndrome and absence of a vagina and right sided adnexa uteri is reported. Other congenital malformations associated with the Waardenburg syndrome are mentioned and it is postulated that they may be the result of an altered invasion of neurones or altered neurones in certain organ systems early in embryogenesis.
报道了一名18岁的单身犹太女性,患有瓦登伯革氏综合征,且无阴道和右侧子宫附件。文中提及了与瓦登伯革氏综合征相关的其他先天性畸形,并推测它们可能是胚胎发育早期某些器官系统中神经元侵袭改变或神经元改变的结果。