Lerone M, Soliani M, Corea D, Romeo G, Martucciello G, Silengo M C
Istituto G. Gaslini, Ambulatorio di Genetica Molecolare, Genova, Italy.
Am J Med Genet. 1992 Dec 1;44(6):827-9. doi: 10.1002/ajmg.1320440623.
Four unrelated cases of congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects were reported by McCredie and Reid in 1978 (J Pediatr 92: 762-765). As contiguous segments of the cervical neural crest are involved in the development of diaphragm and arms, the authors suggested that an early injury to the cervical neural crest might be the common underlying pathogenesis. We describe here a further example of this malformation complex: a newborn with a left posterolateral diaphragmatic hernia associated with ipsilateral thumb hypoplasia.
1978年，麦克雷迪和里德报告了4例与同侧上肢发育不全相关的先天性膈疝病例（《儿科学杂志》92: 762 - 765）。由于颈神经嵴的相邻节段参与膈肌和上肢的发育，作者认为颈神经嵴早期损伤可能是共同的潜在发病机制。我们在此描述这种畸形综合征的另一个例子：一名患有左后外侧膈疝并伴有同侧拇指发育不全的新生儿。
