Congenital syndromes Flashcards
1
Q
Goldenhar
A
AKA: oculo-auricular-vertebral syndrome
UL Colobomas Limbal dermoid (usually IT) Preauricular skin tag Heart disease CNS abnormalities Skeletal abnormalities (vertebral, rib)
2
Q
Treacher-Collins
A
Lower eyelid coloboma
3
Q
Waardenburg Syndrome
A
Abnormality of tyrosine metabolism
Hearing loss
Dystopia canthorum
Heterochromia
Forelock of white hair
4
Q
Microphthalmos
A
Trisomy 21
Dwarfism
Intellectual disability
- small, DISORGANIZED eye
5
Q
Aniridia
A
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
6
Q
Mobius Syndrome
A
CN VI, VII palsy Masked facies (2/2 CN VII palsy)
Systemic:
- Chest wall
- Clubbed feet
- Tongue deformation
7
Q
Lisch nodules
A
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)
8
Q
Pilocytic astrocytoma
A
NF1