Wallerstein R, Wallerstein D F, Trauffer P, Desposito F
Department of Pediatrics, New York University Medical Center, NY 10016, USA.
Clin Dysmorphol. 1997 Jul;6(3):257-61. doi: 10.1097/00019605-199707000-00010.
There have been a small number of documented cases of isolated congenital diaphragmatic hernia and ipsilateral limb defects. Early cervical neural crest injury has been postulated as the mechanism behind the coexistence of these two defects. We present a case of left-sided congenital diaphragmatic hernia and ipsilateral radial ray defect consisting of thumb hypoplasia and absent radius. Our patient is an adult who presented for reproductive counselling providing an opportunity for long-term follow-up.
已有少数关于孤立性先天性膈疝和同侧肢体缺陷的文献记载病例。早期颈神经嵴损伤被认为是这两种缺陷并存的机制。我们报告一例左侧先天性膈疝并同侧桡骨射线缺陷，包括拇指发育不全和桡骨缺如的病例。我们的患者是一位前来接受生殖咨询的成年人，这为长期随访提供了机会。
