Semantic and Nosological Confusions on Multiple Vertebral Segmentation Defects
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Accessible online at: www.karger.com/journals/pne Dear Sir, I read with great interest the article of Duru et al. [Pediatr Neurosurg 1999;30: 272–277]. They suggest a fitting comment that the common association of segmental costovertebral malformations with neural tube defects could be related to an early gastrulation genomic defect, or to the interaction of different genes, resulting in this complex phenotype. However, the authors fail to point out classification by Mortier et al. [1]. They reported a broad analysis of multiple vertebral segmentation defects. Major anomalies in association with multiple vertebral segmentation defects were found primarily in the sporadic cases and only occasionally in the familial cases [1]. Besides, the authors point out that polythelia have not previously been described in patients with spondylocostal dysostosis. But we known that it has previously been described by Aslan et al. [2] and Karnes et al. [3]. References
[1] A. Okten,et al. Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations. , 1997, Genetic counseling.
[2] G. Mortier,et al. Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. , 1996, American journal of medical genetics.
[3] M. Pierpont,et al. Jarcho-Levin syndrome: four new cases and classification of subtypes. , 1991, American journal of medical genetics.