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
