Mandjee D, Clément F, Belin M, Harter S, Clamaran E
Service de Gynécologie-Obstétrique, CHG, St. Germain-en-Laye.
Rev Fr Gynecol Obstet. 1991 May;86(5):391-6, 399-400.
The authors report two cases of achondrogenesis, the first of which was diagnosed in utero. Ultrasonographic abnormalities suggested the diagnosis, which was confirmed radiographically. The diagnosis of achondrogenesis in utero made it possible to avoid a Cesarian. It is always difficult to extract the malformed fetus. The histopathology findings make it possible to codify this rare type of congenital and lethal chondrodysplasia. Achondrogenesis is probably inherited in a recessive and autosomic fashion.
作者报告了两例软骨发育不全病例，其中第一例在子宫内被诊断出来。超声检查异常提示了诊断结果，并通过影像学检查得到证实。子宫内诊断出软骨发育不全使得避免剖宫产成为可能。娩出畸形胎儿总是很困难。组织病理学检查结果使得对这种罕见的先天性致死性软骨发育不良进行分类成为可能。软骨发育不全可能以隐性常染色体方式遗传。
