Park Y, Gong G, Choe G, Yu E, Kim K S, Lee I
Department of Pathology, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Korea.
J Korean Med Sci. 1993 Dec;8(6):471-5. doi: 10.3346/jkms.1993.8.6.471.
Jarcho-Levin syndrome (JLS) is a condition manifested by malformations of vertebral bodes and related ribs. There are two major subtypes spondylocostal dysostosis and spondylothoracic dysostosis, with different survival rates, associated malformations, and inheritance patterns. We have experienced an autopsy case of a premature female fetus with multiple congenital anomalies. She was 30 weeks of gestational age, born as the second baby of twins and expired shortly after birth. A post-mortem examination revealed multiple abnormalities including cervicothoracic hemivertebrae, a diminished number of right-sided ribs, and pulmonary hypoplasia with left diaphragmatic hernia. In addition, there were anomalous rotation of the foregut, unfused pancreas and anomalous drainage of the superior vena cava. Chromosomal analysis showed 46, XX, del(4)(q ter).
贾科-莱文综合征（JLS）是一种以椎体及相关肋骨畸形为特征的疾病。它主要有两种亚型，即脊椎肋骨发育不良和脊椎胸廓发育不良，二者在生存率、相关畸形及遗传模式方面存在差异。我们曾遇到一例有多种先天性异常的早产女胎尸检病例。她孕龄30周，是双胞胎中的第二个胎儿，出生后不久即死亡。尸检发现多处异常，包括颈胸半椎体、右侧肋骨数量减少、肺发育不全伴左侧膈疝。此外，还存在前肠旋转异常、胰腺未融合以及上腔静脉引流异常。染色体分析显示为46, XX, del(4)(q ter)。
