title: Identical twins concordant for pulmonary sequestration communicating with the esophagus and discordant for the VACTERL association.
abstract: 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.
authors.affiliation: Pediatric Surgery Association, CS Mott Children's Hospital, F-3970, Box 0245, Ann Arbor, MI 48109-0245, USA.
authors.forename: Julie
authors.initials: J
authors.lastname: Becker
authors.forename: Ambrosio
authors.initials: A
authors.lastname: Hernandez
authors.forename: Michael
authors.initials: M
authors.lastname: Dipietro
authors.forename: Arnold G
authors.initials: AG
authors.lastname: Coran
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001998:Bronchopulmonary Sequestration / Q000235:genetics*; D004200:Diseases in Twins; D004933:Esophageal Atresia / Q000235:genetics; D004947:Esophagus / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D014138:Tracheoesophageal Fistula / Q000235:genetics; D014430:Twins, Monozygotic