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Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

Authors :
Nagendra Chaudhary
Sandeep Shrestha
Hemant Kumar Halwai
Source :
Case Reports in Genetics, Vol 2017 (2017)
Publication Year :
2017
Publisher :
Wiley, 2017.

Abstract

Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association.

Subjects

Subjects :
Genetics
QH426-470

Details

Language :
English
ISSN :
20906544 and 20906552
Volume :
2017
Database :
Directory of Open Access Journals
Journal :
Case Reports in Genetics
Publication Type :
Academic Journal
Accession number :
edsdoj.72de8bf16d774a1c92d16592aad306e7
Document Type :
article
Full Text :
https://doi.org/10.1155/2017/2625030