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The hydrolethalus syndrome is an autosomal recessive malformation syndrome which has been recently described in Finland. The
name hydrolethalus refers to the main findings, namely polyhydramnios, hydrocephalus and lethality. The patients are either
stillborn or die soon after birth. The typical roentgenologic findings are hypoplasia of the tibia associated with the anomalies
of the respective bone ray, e.g. metatarsus primus varus atavisticus, hallux varus or hallux duplex varus and hydrocephalus
with extreme micrognathia and a specific midline defect of the occipital bone. 相似文献
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目的通过手术改善轻中度颏部发育不足及矫治颏偏斜不对称畸形,改善面下部鼻唇颏正侧面的综合形态.方法对颏部发育不足或颏部偏斜不对称患者共10例进行颏前徙成形术,患者均不伴有明显咬合紊乱及颞下颌关节紊乱症状,其中颏部垂直向发育不足者2例,前后向发育不足者3例,前后及垂直向兼有者3例,颏部偏斜者2例,其中2例为硅胶假体隆颏术后外形不满意,术前本身就为颏部前后向发育欠佳.手术纠正了患者颏部垂直向及前后向的外形,并改善了鼻唇颏的正侧面综合形态.结果所有患者术后随访3~6个月,均恢复良好,术后面下部鼻唇颏综合外形满意,无不良反应.结论颏前徙成形术对于单纯的轻中度颏发育不足及颏部偏斜不对称患者的下颌部外形有明显的改善,术后面下部鼻唇颏形态效果良好,避免了硅胶假体隆颏术后继发局部骨质吸收、假体移位等弊端. 相似文献
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Our aim was to evaluate the efficacy of simultaneous gap arthroplasty and distraction osteogenesis (DO) in the treatment of unilateral ankylosis of the temporomandibular joint (TMJ) in patients with micrognathia. During the period January 2000-December 2006, 11 patients with unilateral ankylosis of the TMJ and micrognathia were treated with simultaneous gap arthroplasty, mandibular osteotomy, and implantation of a distractor. Mouth opening exercises were started on the first postoperative day and distraction on the fifth postoperative day. All patients had satisfactory mouth opening at follow-up, the mean (range) being 32.4 (28-37) mm in 13 to 58 months' follow-up. Mean length (range) of the mandibular body increased by DO was 12.4 (7-15) mm. Facial asymmetry was corrected and satisfactory occlusions achieved with the help of postoperative orthodontic treatment. We conclude that DO and gap arthroplasty can be used simultaneously in the treatment of patients with ankylosis of the TMJ and micrognathia. 相似文献
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Pierre Robin序列征(PRS)是一组病因复杂,临床表现多样的先天性发育畸形,其特征为下颌骨发育不全(小颌畸形或颌后缩)、舌后坠及其所致的上气道梗阻,常伴发腭裂.新生儿期常表现为呼吸及喂养困难、吸入性肺炎,部分患儿还伴发其他畸形.临床上如发现小下颌、舌后坠及其所致的上气道梗阻等典型表现时即可做出PRS的诊断.因PRS与许多多发畸形综合征密切相关,故治疗必须采取个体化的原则以获得最好的疗效.多数PRS患儿有不同程度的生长发育落后,它的预后根据其是否为多发畸形的一部分还是单独存在,有无经历过因上气道梗阻所致的脑部缺氧缺血,有很大的区别. 相似文献
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Leonard O. Langer Jr. Mario Gonzalez-Ramos Harold Chen Ceres E. Espiritu N. Warn Courtney John M. Opitz 《European journal of pediatrics》1976,123(1):29-38
This paper describes 3 infants with a severe, generalized chondrodysplasia with short limbs, shortness of stature, relative micrognathia and neonatal respiratory distress in all cases, cleft palate in two and dislocation of lenses in one. They diet at 7 and 10 weeks and at 17 months respectively. No autopsy was performed on any of the 3 patients. Roentgenological manifestations include short, broad tubular bones with metaphyseal widening, bowing of leg, thigh and forearm bones, neonatal accelerated carpal bone maturation, short, broad pelvis with wide, flared iliac wings, many gross vertebral abnormalities including most prominently coronal clefts of almost any vertebral body, and short ribs with flared anterior ends. Roentgenographically the condition has some similarities with Kniest disease, or more correctly, the Kniest chondrodysplasia. However, we think that the clinical and roentgenological manifestations are sufficiently unique to permit delineation of the condition of our 3 patients as a new entity different from the Kniest chondrodysplasia. Similar cases have been described by Rolland et al. from France and by Dinno et al. from the U.S.A. The latter case and our 3 patients were sporadic cases, but the former had a probably affected sibling, suggesting that this disorder is an autosomal recessive trait.Supported by HEW/USPHS Grant GM20130-02 from the National Institute of General Medical Sciences. Paper No. 1935 from the University of Wisconsin Genetics Laboratory. 相似文献