Hennekam R C, Goldschmeding R
Institute for Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Eur J Hum Genet. 1998 Jan;6(1):71-4. doi: 10.1038/sj.ejhg.5200154.
We describe a newborn with complete absence of ossification of the ribs, extreme micrognathia, absence of external ear canals and the inner ears, and diminished mobility in the upper extremities. It is suggested that this represents an unusually severe expression of the cerebro-costo-mandibular syndrome. Some developmental genes that may have played a role in the pathogenesis are briefly reviewed.
我们描述了一名新生儿，其肋骨完全没有骨化，严重小颌畸形，外耳道和内耳缺失，上肢活动度降低。提示这代表了一种极为严重的脑-肋-下颌综合征表现。简要回顾了一些可能在发病机制中起作用的发育基因。
