Article
Escobar syndrome with heterotaxia and esophageal atresia: case report.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2014
Martínez-Barrera L E, Morán-Barroso V F, Perezpeña-Díazconti M, Zuñiga-Rodríguez F G, Manzano-Sierra C, García-Delgado C
Abstract excerpt
Escobar syndrome (ES) or multiple pterygia syndrome (MIM#265000) is an infrequent condition characterized by facial dysmorphism, multiple webbing (pterygia), congenital contractures (arthrogryposis) and other internal anomalies. We describe an 8-days-old male newborn from consanguineous parents with ES who also presented heterotaxia syndrome and esophageal atresia, anomalies that not have been previously reported...
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