Congenital 'frozen eyes', with other mesodermal abnormalities: report of a case.
A case is reported of a 41/2-year-old girl with generalized fibrosis, no active or passive eye movements, anisohyperopia, craniofacial asymmetry and hypoplasia of a toe. There was no ptosis, nor backward head tilt and only a moderate exotropia. Study of the fixation and of the binocular relationship met with unusual difficulties owing to the absence of eye movements. Mesodermal abnormalities were noted in the anterior chamber. A normal female karyotype was reported and family history was noncontributory.
D000015:Abnormalities, Multiple; D000550:Amblyopia / Q000150:complications; D002675:Child, Preschool; D005146:Facial Asymmetry / Q000150:complications; D005260:Female; D005403:Fixation, Ocular; D006801:Humans; D009886:Ophthalmoplegia / Q000150:complications / Q000151:congenital*; D012886:Skull / Q000002:abnormalities