Naming Syndromes

Question 1

Goldenhar syndrome

Answer 1

AKA - oculoauriculovertebral dysplasia
Congenital condition include;
- cranial lipomas and dermoid
- ocular dermoid
- anomalies of 1st and 2nd branchial arch
- cardiovascular, facial, oral,auricular, visceral, spinal defect.

Question 2

Parinaud syndrome

Answer 2

> AKA. “dorsal midbrain syndrome”
supranuclear vertical gaze disturbance
caused by compression of the tectal plate.

Etiology
» Most frequently due to posterior commisure or pineal region mass (typically solid tumours rather than pineal cysts).

It is characterised by:
1) a deficiency in upward-gaze
2) pupillary light-near dissociation (pupils respond to near stimuli but not light)
3) convergence-retraction nystagmus
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Etymology
Named after Henry Parinaud, 
a French ophthalmologist (1844 - 1905)