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Goldenhar syndrome

Case contributed by Hani Makky Al Salam
Diagnosis probable

Presentation

Dysmorphic features

Patient Data

Age: 7 years
Gender: Male
x-ray

Radiographs show asymmetry of the skull with hemifacial microsomia and vertebral segmentation defects resulting in thoracic scoliosis.

ct

There is aplasia of the right external and middle ear. Grossly hypoplastic pinna represented by skin tag.
There is no microphthalmia.

Case Discussion

Features are consistent with Goldenhar syndrome.

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