Becker Julie, Hernandez Ambrosio, Dipietro Michael, Coran Arnold G
Pediatric Surgery Association, CS Mott Children's Hospital, F-3970, Box 0245, Ann Arbor, MI 48109-0245, USA.
Pediatr Surg Int. 2005 Jul;21(7):541-6. doi: 10.1007/s00383-005-1452-3. Epub 2005 Jun 4.
Communicating bronchopulmonary foregut malformations (CBPFMs) are unusual congenital structures composed of a segment of lung tissue connected to the foregut. We present what we believe is the first reported case of identical twins concordant for CBPFM who are discordant for the VACTERL association. Their nonfunctional lung tissue was successfully removed and the fistulae were corrected, and they are expected to live normal life spans. We review the literature concerning these malformations and the proposed theories of their etiology. This case report of concordance in identical twins suggests that a possible genetic component to CBPFMs cannot be ruled out. The discordance for the VACTERL association implies that the etiology is most likely multifactorial.
交通性支气管肺前肠畸形(CBPFMs)是由一段与前肠相连的肺组织构成的罕见先天性结构。我们报告了我们认为首例关于CBPFM一致但VACTERL综合征不一致的同卵双胞胎病例。他们无功能的肺组织被成功切除,瘘管也得到了纠正,预计他们将正常寿命。我们回顾了有关这些畸形及其病因学理论的文献。这例同卵双胞胎一致的病例报告表明,不能排除CBPFMs存在可能的遗传因素。VACTERL综合征不一致意味着病因很可能是多因素的。