purpose: to report a case who had optic disc duplication, a rare congenital disorder characterized by two well-defined discs in one eye. case report: a 19 months-old child presented with unilateral epiphora in the right eye since birthday. the right eye was smaller than the left eye and mild ptosis was apparent. nasolacrimal duct probing was performed under general anesthesia. the examination r...

We describe two brothers with Joubert syndrome (JS). JS diagnosis was made on the basis of neurological findings and the presence of the characteristic "molar tooth sign", which was subsequently confirmed by magnetic resonance imaging. Both brothers demonstrated ptosis, hypotropia, exotropia, and horizontal pendular nystagmus. The younger brother had mild chorioretinal discoloration at the peri...

To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.