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Journal of Case Reports
Goldenhar Syndrome
Priti SL, Mulimani MS, Nivedita K
Department of General Medicine, Shri B.M. Patil Medical College Hospital and Research Centre, Vijayapura, India.
Corresponding Author:
Dr. Priti SL
Email: pritisl2011@gmail.com
Received: 23-JUN-2015 Accepted: 04-AUG-2015 Published Online: 30-AUG-2015
DOI: http://dx.doi.org/10.17659/01.2015.0095
Abstract
A 20 year old male patient presented with ascites since birth, swelling of right scrotum, absence of development of secondary sexual characters, breathlessness on exertion, short limb gait, and hematemesis. Ultrasound imaging and CT angiography of the abdomen revealed absence of portal vein, thrombus at the junction of superior mesenteric vein and splenic vein, cavernous transformation and development of collaterals. Echocardiography revealed hypertrophic obstructive cardiomyopathy (HOCM) and X-ray hip revealed absence of head of femur. Scrotal examination revealed right sided indirect inguinal hernia and hydrocoele. A diagnosis of Goldenhar syndrome was made.

Goldenhar syndrome consists plethora of clinical features comprising congenital portal vein absence with associated cardiac defects, skeletal abnormality and urogenital defects. Our case deserves attention and needs to be reported because so far in the medical literature only one case of congenital portal vein absence with HOCM has been reported and also no other case of congenital portal vein absence with thrombosis at the SMV and SV junction associated with HOCM has been reported in the medical literature.
Keywords : Goldenhar Syndrome, Hematemesis, Hypertrophic Cardiomyopathy, Inguinal Hernia, Scrotum.
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