Smith K G, Sekar K C
Clin Pediatr (Phila). 1985 Apr;24(4):223-5. doi: 10.1177/000992288502400411.
Cerebrocostomandibular syndrome (CCM) is characterized by micrognathia, cleft palate, rib defects, and frequently, mental deficiency. Death from respiratory complications occurs in 40 percent of cases before they reach 1 year of age. We describe a case of CCM with the previously unreported findings of large for gestational age at birth, radiologic evidence of bilaterally displaced radial heads, and development of brachycephaly.
脑-肋-下颌综合征(CCM)的特征为小颌畸形、腭裂、肋骨缺陷,且常伴有智力缺陷。40%的病例在1岁前死于呼吸并发症。我们描述了一例CCM病例,该病例有此前未报告的出生时大于胎龄、双侧桡骨头移位的影像学证据以及短头畸形的表现。