ESCOBAR SYNDROME WITH HETEROTAXIA AND ESOPHAGEAL ATRESIA: CASE REPORT

作者：Martinez Barrera L E; Moran Barroso V F; Perezpena Diazconti M; Zuniga Rodriguez F G; Manzano Sierra C; Garcia Delgado C^*

来源：Genetic Counseling, 2014, 25(3): 321-330.

• Escobar syndrome
• Heterotaxia
• Arthrogryposis

Escobar syndrome with heterotaxia and esophageal atresia: case report: 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 as associated to ES.

• 出版日期2014