Congenital syndromes

Question 1

Goldenhar

Answer 1

AKA: oculo-auricular-vertebral syndrome

UL Colobomas
Limbal dermoid (usually IT)
Preauricular skin tag
Heart disease
CNS abnormalities
Skeletal abnormalities (vertebral, rib)

Question 2

Treacher-Collins

Answer 2

Lower eyelid coloboma

Question 3

Waardenburg Syndrome

Answer 3

Abnormality of tyrosine metabolism

Hearing loss
Dystopia canthorum
Heterochromia
Forelock of white hair

Question 4

Microphthalmos

Answer 4

Trisomy 21
Dwarfism
Intellectual disability

• small, DISORGANIZED eye

Question 5

Aniridia

Answer 5

Sporadic v AD mut’n @ PAX6
15% ass’d with WAGR

Wilms tumors
GU abnormalities
Retardation

Aniridia usually w small stalk of iris that ultimately causes angle closure

Question 6

Mobius Syndrome

Answer 6

CN VI, VII palsy 
Masked facies (2/2 CN VII palsy)

Systemic:

• Chest wall
• Clubbed feet
• Tongue deformation

Question 7

Lisch nodules

Answer 7

NF1

Iris nodules

Other NF1 criteria = 2 or more of:

• first deg relative with NF1
• 6 or more cafe au lait spots
• 2 or more neurofibromas it’s 1 or more plexiform neurofibromas
• 2 or more lisch nodules
• distinctive bone lesions
• optic nerve glioma (e.g. pilocytic astrocytoma)

Question 8

Pilocytic astrocytoma

Answer 8

NF1