Syndromes Flashcards
1
Q
Albright’s syndrome
-Imaging finding?
A
- polyostotic fibrous dysplasia
- short stature, premature closure of epiphysis, precocious puberty, hyperpigmented macules
- ground glass appearance on imaging
2
Q
Hand-Schuller-Christian disease
A
- Proptosis, lytic skull lesions, diabetes insipidus
- Histiocytosis X
- Tx: systemic steroids and chemo
3
Q
Treacher-Collins syndrome
A
- midface hypoplasia
- absent lateral canthal tendon, absent medial lashes, antimongoloid slant, ectropion, poorly developed puncta and MG
4
Q
Goldenhar’s Syndrome
A
- limbal dermoids and dermolipomas
- upper lid coloboma
- assoc with Duane’s syndrome
5
Q
Crouzan’s syndrome
A
- most common AD craniosynostosis
- V pattern exotropia , hypertelorism optic atrophy
- FGFR2 (chrom 10)
- parrot’s beak nose, MR, maxilla hypoplasia
6
Q
Apert’s syndrome
A
-Crouzans PLUS syndactyly
7
Q
Waardenburg’s syndrome
A
-lateral displacement of inner canthi, confluent eyebrows, heterochromia iridis, sensorineural deafness, white forelock
8
Q
Hallerman-Streiff syndrome
A
-bilateral cataracts, glaucoma, microphakia, microcornea
