Silverman F N, Strefling A M, Stevenson D K, Lazarus J
J Pediatr. 1980 Sep;97(3):406-16. doi: 10.1016/s0022-3476(80)80190-9.
The cerebro-costo-mandibular syndrome is characterized by cerebral maldevelopment or malfunction or both, costal deficiencies, and micrognathia. Cleft palate and glossoptosis are frequently present and contribute to the common presenting sign, neonatal respiratory distress. Intrauterine and postnatal growth retardation are common. Familial cases are rare and the mode of transmission is uncertain. The deficiencies in the posterior portion of affected ribs are the sine qua non for diagnosis; roentgenographic confirmation is required. Since the first description of this pattern of prenatal growth defect in 1966, 19 patients who fulfill the criteria for diagnosis have been reported. We present three additional cases, one of which includes roentgenographic-pathologic correlations, and summarize the combinations of features present in previously described cases. Pulmonary complications incident to lack of thoracic cage support result in poor prognosis for survival.
脑-肋-下颌综合征的特征为脑发育异常或功能障碍或两者皆有、肋骨发育不全以及小颌畸形。腭裂和舌后坠也很常见，并导致常见的临床表现，即新生儿呼吸窘迫。宫内和出生后生长发育迟缓很常见。家族性病例罕见，遗传方式尚不确定。受累肋骨后部的发育不全是诊断的必要条件；需要X线检查来确诊。自1966年首次描述这种产前生长缺陷模式以来，已有19例符合诊断标准的患者被报道。我们报告另外3例病例，其中1例包括X线检查与病理的相关性，并总结了先前报道病例中所呈现的特征组合。因胸廓支撑不足引发的肺部并发症导致生存预后不良。
