Tolmie J L, Whittle M J, McNay M B, Gibson A A, Connor J M
Prenat Diagn. 1987 Feb;7(2):129-34. doi: 10.1002/pd.1970070209.
The Jarcho-Levin syndrome (spondylothoracic dysostosis) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted thorax due to multiple rib and vertebral defects; other visceral malformations are occasionally present. Most cases die in infancy due to respiratory failure. In this report we describe two cases in one family from the United Kingdom. Prenatal diagnosis by ultrasound examination during the second trimester was successfully accomplished in the second case.
贾科-莱文综合征（脊椎胸廓发育不全）是一种罕见的常染色体隐性疾病，其特征为颈部短、躯干短以及由于多发肋骨和脊椎缺陷导致胸廓狭窄；偶尔还会出现其他内脏畸形。多数病例因呼吸衰竭在婴儿期死亡。在本报告中，我们描述了来自英国的一个家族中的两例病例。第二例病例成功地在孕中期通过超声检查进行了产前诊断。
