Escobar syndrome with heterotaxia and esophageal atresia: case report.

Abstract

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.

• Authors: L E Martínez-Barrera, V F Morán-Barroso, M Perezpeña-Díazconti, F G Zuñiga-Rodríguez, C Manzano-Sierra, C García-Delgado
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 25 Issue 3 Pg. 321-30 ( 2014) ISSN: 1015-8146 [Print] Switzerland
• PMID: 25365855 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis, genetics, pathology)
• Consanguinity
• Esophageal Atresia (diagnosis, genetics, pathology)
• Fatal Outcome
• Fetus (pathology)
• Genotype
• Heterotaxy Syndrome (diagnosis, genetics, pathology)
• Humans
• Infant, Newborn
• Karyotyping
• Male
• Malignant Hyperthermia (diagnosis, genetics, pathology)
• Pedigree
• Phenotype
• Skin Abnormalities (diagnosis, genetics, pathology)