Kirk E P, Arbuckle S, Ramm P L, Adès L C
Department of Clinical Genetics, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.
Am J Med Genet. 1999 May 21;84(2):120-4.
We report on a family in which two sibs had apparently absent ribs and severe micrognathia on prenatal ultrasonography. The pregnancies were terminated at 19 and 12 weeks of gestation, respectively. Autopsy findings in the first fetus (19 weeks of gestation) included severe micrognathia, a U-shaped defect of the soft palate, marked postnuchal edema, absent olfactory bulbs, and cribriform plate and rib abnormalities. The ribs consisted of cartilage anteriorly, with only a small amount of fibrous tissue present laterally and posteriorly. The second fetus (12 weeks gestation) had agnathia, with a large U-shaped defect in the soft palate. There was moderate postnuchal edema. The ribs were unossified and there were gaps in the cartilage where primitive mesenchyme was present posteriorly and laterally. These findings are consistent with a severe form of cerebro-costo-mandibular syndrome. The early fetal histopathology of both cases suggests a possible mechanism by which the characteristic "rib gaps" of cerebro-costo-mandibular syndrome may develop, with evidence for abnormal function of a gene or genes involved in regulation of rib chondrogenesis.
我们报告了一个家庭，其中两名同胞在产前超声检查中显示明显肋骨缺失和严重小颌畸形。妊娠分别在孕19周和12周时终止。对第一个胎儿（孕19周）的尸检结果包括严重小颌畸形、软腭U形缺损、明显的项后水肿、嗅球缺失、筛板及肋骨异常。肋骨前部由软骨组成，外侧和后部仅存在少量纤维组织。第二个胎儿（孕12周）有无下颌畸形，软腭有一个大的U形缺损。有中度项后水肿。肋骨未骨化，软骨中有间隙，在其后方和外侧有原始间充质。这些发现与严重形式的脑-肋-下颌综合征一致。两例病例的早期胎儿组织病理学提示了脑-肋-下颌综合征特征性“肋骨间隙”可能形成的一种潜在机制，有证据表明参与肋骨软骨生成调节的一个或多个基因功能异常。
