Silengo M C, Cavallaro S, Franceschini P
Clin Genet. 1978 Mar;13(3):289-94. doi: 10.1111/j.1399-0004.1978.tb01183.x.
Two sisters with spondylocastal dysostosis are presented. Clinical findings are: short neck, short trunk, decreased upper to lower segment ratio, vertebral and costal malformations and normal intelligence. Both the clinical aspects and the family history are suggestive of the autosomal recessive form of the disease.
本文报告了两例患有脊椎肋骨发育不良的姐妹。临床发现包括：颈部短、躯干短、上下身比例降低、脊椎和肋骨畸形以及智力正常。临床症状和家族史均提示该病为常染色体隐性遗传形式。
