Van Thienen M N, Van der Auwera B J
Department of Medical Genetics, University of Antwerp-UIA, Belgium.
Am J Med Genet. 1994 Oct 1;52(4):483-6. doi: 10.1002/ajmg.1320520416.
Spondylocostal dysostosis (SCD) is a rare skeletal dysplasia with clinical and radiological manifestations, consisting of short neck and trunk, barrel-shaped chest, protuberant abdomen, scoliosis and abnormalities of vertebral segmentation and of the ribs. Both autosomal recessive and autosomal dominant inheritance have been described. We report on monozygotic twins discordant for the syndrome, either due to a post-zygotic mutation or development of a phenocopy. To our best knowledge, this is the fourth report of SCD in identical twins, and the first one of discordance in monozygotic twins.
脊椎肋骨发育不良（SCD）是一种罕见的骨骼发育异常疾病，具有特定的临床和放射学表现，包括短颈、躯干短小、桶状胸、腹部突出、脊柱侧弯以及椎体节段和肋骨异常。该病已被证实存在常染色体隐性和显性遗传两种方式。我们报告了一对单卵双胞胎，其中一人患有该综合征，另一人未患，原因可能是合子后突变或拟表型的发生。据我们所知，这是关于同卵双胞胎中SCD的第四份报告，也是第一份关于单卵双胞胎不一致性的报告。
