Ohri G L, DeVenecia R, Acs H
Dev Med Child Neurol. 1980 Aug;22(4):509-12. doi: 10.1111/j.1469-8749.1980.tb04357.x.
A case of tuberous sclerosis in a preterm newborn baby is described, in whom there were also multiple rhabdomyomas of heart, diaphragmatic hernia, giant-cell astrocytoma of lateral ventricle and malrotation of the intestine. This is the first report of an association of tuberous sclerosis with diaphragmatic hernia. The presence of multiple congenital malformations supports the theory that tuberous sclerosis represents multi-germ layer dysplasia.
本文描述了一例早产新生儿患结节性硬化症的病例，该患儿还伴有心脏多发性横纹肌瘤、膈疝、侧脑室巨细胞星形细胞瘤和肠旋转不良。这是结节性硬化症与膈疝关联的首例报告。多种先天性畸形的存在支持了结节性硬化症代表多胚层发育异常的理论。
