Marik I, Grochova J, Kozlowski K
Centre for Patients with Defects of the Locomotor System, Praha, Czech Republic.
Clin Dysmorphol. 2000 Oct;9(4):285-7. doi: 10.1097/00019605-200009040-00011.
We report a third patient, a female, with thoraco-pelvic dysostosis. This rare disorder is similar in phenotypic and radiographic appearances to thoraco-laryngo-pelvic dysplasia (Barnes syndrome). The only major difference between these two diseases is absence of laryngeal involvement in thoraco-pelvic dysplasia. They may represent two different entities or a contiguous gene syndrome.
我们报告了第三例患者，一名女性，患有胸骨盆发育不全。这种罕见疾病在表型和影像学表现上与胸喉骨盆发育异常（巴恩斯综合征）相似。这两种疾病之间唯一的主要区别是胸骨盆发育不全不伴有喉部受累。它们可能代表两种不同的实体或一种相邻基因综合征。
