Delahaye R P, Metges P J, Anglade J P, Malmezat X, Pascal-Suisse P
J Radiol Electrol Med Nucl. 1976 Apr;57(4):359-62.
On the occasion of radiopelvimetry, requested for suspected narrowed pelvis, osteopetrosis was discovered simultaneously in the mother and fetus. At birth, the child was perfectly normal and subsequently showed no clinical or laboratory disorder apart from diffuse osseous condensation. The genetic enquiry proved difficult owing to the family situation and up to this day it is not complete and definitively stopped. Although the beginning of the osseous disorders starts in the fetus on an average at the 4th to 5th month of pregnancy, Albers-Schonberg disease is exceptionally diagnosed during the parenatal period. In fact, the incidence of osteopetrosis in the population remains low and on the other hand prenatal radiological examinations are sparingly requested for specific clinical indications. It is the simultaneous discovery of the condition in the mother and the fetus which makes this case a novel one. The discovery of the fetal involvement does not permit prediction concerning progress towards a benign or malignant form.
在因怀疑骨盆狭窄而进行骨盆测量时，同时在母亲和胎儿身上发现了骨硬化症。出生时，孩子完全正常，随后除了弥漫性骨质硬化外，未出现任何临床或实验室异常。由于家庭情况，遗传调查困难重重，直至今日仍未完成且最终停止。尽管骨病通常在胎儿妊娠第4至5个月时开始出现，但阿尔伯斯 - 尚伯格病在产前阶段被诊断出来的情况极为罕见。事实上，骨硬化症在人群中的发病率仍然很低，另一方面，产前放射学检查仅在特定临床指征下才会少量进行。母亲和胎儿同时被发现患有此病，使得该病例具有独特性。胎儿患病的发现并不能预测其病情会朝着良性或恶性形式发展。
