Bruyere H J, Viseskul C, Opitz J M, Langer L O, Ishikawa S, Gilbert E F
Eur J Pediatr. 1980 Aug;134(2):139-43. doi: 10.1007/BF01846033.
We describe the fetus delivered to an insulin-dependent diabetic woman who had had a previous large, stillborn, non-malformed male infant and a normal female infant. The present fetus had a most unusual combination of malformations which to date had not been described in diabetic embryopathy. The anomalies include: upper limb amelia, "caudal regression" with bilateral absence of the fibulae, unilateral absence of a femur and ipsilateral oligodactyly; undescended testes; atrial septal defect; multiple vertebral and rib anomalies with cervical scoliosis and right webbed neck; left cleft lip and cleft palate; severe micrognathia; left microtia with atresia of the ear canal; and central nervous system defects including hydrocephalus with the Dandy-Walker malformation, asymmetry of the lateral ventricles, abnormal frontal gyral formation, and ependymal and ganglion cell heterotopias of the spinal cord. The pathogenesis of diabetic embryopathy is discussed.
我们描述了一名胰岛素依赖型糖尿病女性所分娩的胎儿情况。该女性曾生育过一个体型巨大的、非畸形的死产男婴以及一个正常女婴。当前这名胎儿存在一组极为罕见的畸形组合，迄今为止在糖尿病胚胎病中尚未有过此类描述。这些异常包括：上肢无肢畸形、双侧腓骨缺如的“尾椎退化”、单侧股骨缺如及同侧少指畸形；睾丸未降；房间隔缺损；多发椎体及肋骨异常伴颈椎侧弯和右侧蹼颈；左侧唇腭裂；严重小颌畸形；左侧小耳伴耳道闭锁；以及中枢神经系统缺陷，包括伴有丹迪 - 沃克畸形的脑积水、侧脑室不对称、额叶脑回形成异常以及脊髓室管膜和神经节细胞异位。本文还讨论了糖尿病胚胎病的发病机制。
