- Short stature
- brachydactyly
- shawl scrotum
- Hypertelorism (90%)
- Ptosis (50%)
- Downslanting palpebral fissures
- Strabismus
- Hyperopic astigmatism
- latent nystagmus
- blue sclera
- posterior embryotoxin
- corneal enlargement
- X-linked recessive, linked to Xp11.21
- Female carriers have minor manifestations
- 100 cases reported
- Broad upper lip, anteverted nostrils
- Osteoconditis dessicans
- Stretchable skin
- Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p.1029
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