Literature DB >> 1890482

An interesting case presentation: pulmonary malformations associated with oculoauriculovertebral dysplasia (Goldenhar anomalad).

G J Downing1, H Kilbride.   

Abstract

Oculoauriculovertebral dysplasia (OAV) is a heterogeneous field defect involving the first and second branchial arches and is characterized by microtia, mandibular hypoplasia, vertebral anomalies, and epibulbar dermoids. We report a case of OAV with pulmonary manifestations and review the literature regarding this association. Anomalies identified were previously undescribed tracheal stenosis, along with tracheoesophageal cleft and unilateral pulmonary agenesis. Recognition of the pulmonary malformations associated with OAV may lead clinicians to consider a diagnostic measure such as flexible fiberoptic endoscopy in the evaluation of infants with craniofacial malformations and respiratory distress.

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Year:  1991        PMID: 1890482

Source DB:  PubMed          Journal:  J Perinatol        ISSN: 0743-8346            Impact factor:   2.521


  3 in total

1.  Goldenhar syndrome with contralateral pulmonary aplasia: a rare association.

Authors:  Tejeshwar Singh Jugpal; Jyoti Kumar; Swati Gupta; Anju Garg
Journal:  J Radiol Case Rep       Date:  2016-01-31

2.  A Constellation of Rare Findings in a Case of Goldenhar Syndrome.

Authors:  Mitesh Bedi; Rakesh Kumar Jain; Vipin Kumar Barala; Abhimanyu Singh; Hiranmayi Jha
Journal:  Case Rep Pediatr       Date:  2017-05-21

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

Authors:  Nagendra Chaudhary; Sandeep Shrestha; Hemant Kumar Halwai
Journal:  Case Rep Genet       Date:  2017-03-09
  3 in total

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