Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome.
We describe a patient with bilateral extreme microphthalmia with bilateral congenital glaucoma, bilateral medial oblique facial cleft ending in lid colobomas, bilateral stenosis of the choanae, bifid uvula, frontal encephalocele, and premature craniosynostosis. The cause is unknown, but the phenotype resembles the Fryns anophthalmia-plus syndrome, which may be a recessive trait, although intrauterine environmental factors cannot be excluded.
Warburg
M
M
Department of Ophthalmology, Herlev Hospital, University of Copenhagen, Denmark.
Jensen
H
H
Prause
J U
JU
Bolund
S
S
Skovby
F
F
Miranda
M J
MJ
D000015:Abnormalities, Multiple / Q000473:pathology*; D000853:Anophthalmos / Q000473:pathology*; D002971:Cleft Lip; D002972:Cleft Palate; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008850:Microphthalmos / Q000473:pathology*; D013577:Syndrome