Atypical presentation of Goldenher syndrome- a rare scenario

Authors

  • C Lath Resident, Dept of Gynaecology and Obstetrics, NRSMCH, Kolkata
  • S Sen RMO Cum Clinical Tutor, Dept of Gynaecology and Obstetrics, NRSMCH, Kolkata
  • M Mondal RMO cum Clinical Tutor, Department of Pediatrics, NRSMCH, Kolkata
  • D Maiti RMO Cum Clinical Tutor, Dept of Gynaecology and Obstetrics, NRSMCH, Kolkata
  • R Singh Resident,Department of ENT, Dept of Gynaecology and Obstetrics, NRSMCH, Kolkata
  • R Bose Resident, Dept of Gynaecology and Obstetrics, NRSMCH, Kolkata

DOI:

https://doi.org/10.3126/jcmsn.v9i4.10239

Keywords:

Goldenher syndrome, preauricular tag and sinus, mandibular hypoplasia, vertebral anomalies, facial asymmetry, rib anomaly, absent radius

Abstract

In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known. Here we present a case of Goldenher syndrome in a 5 days old newborn who presented with all the classical features except ocular involvement.  

Gorlin et.al named this syndrome as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies .2 Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive, autosomal dominant and multifactorial inheritance has also been suggested.2.Chromosomal analysis shows no abnormalities.3 In this report we presented a case of Goldenger Syndrome in a 5 days old newborn who presented with all the classical features except occular involvement.

Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62

DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10239

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Published

2014-04-16

How to Cite

Lath, C., Sen, S., Mondal, M., Maiti, D., Singh, R., & Bose, R. (2014). Atypical presentation of Goldenher syndrome- a rare scenario. Journal of College of Medical Sciences-Nepal, 9(4), 51–54. https://doi.org/10.3126/jcmsn.v9i4.10239

Issue

Vol. 9 No. 4 (2013)

Section

Case Reports

License

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