伴有中胚层发育不全和特殊面容的隐性遗传性肋椎关节分割缺陷（Covesdem综合征）：一种新的遗传实体？
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?
作者信息
Wadia R S, Shirole D B, Dikshit M S
出版信息
J Med Genet. 1978 Apr;15(2):123-7. doi: 10.1136/jmg.15.2.123.
Abstract
Two sibs of a consanguineous mating are described. Both have a gross costovertebral segmentation defect affecting nearly all the thoracic vertebrae, and mesomelia of the limbs, with the upper limbs being obviously more affected than the lower. The facial appearances of the two are identical, with hypertelorism, depressed nasal bridge, large bony upper lip, constantly open mouth, and peg-like teeth. We believe this combination has not been described before and represents the effect of a 'new' recessive gene. We would like to name this combination Covesdem syndrome (costovertebral segmentation defect with mesomelia).
摘要
本文描述了一对近亲结婚夫妇的两个同胞。两人均患有严重的肋椎节段性缺陷，几乎累及所有胸椎，并有四肢短小畸形，上肢受累明显重于下肢。两人面部外观相同，表现为眼距增宽、鼻梁凹陷、上唇骨质增厚、嘴巴常开、牙齿呈钉状。我们认为这种综合征组合此前未曾有过描述，代表了一种“新的”隐性基因的作用。我们将这种综合征组合命名为Covesdem综合征（肋椎节段性缺陷伴四肢短小畸形）。
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