Acessibilidade / Reportar erro

Opitz syndrome: a case report

Objetive: Description of a clinical case of a child presenting Opitz syndrome, strabismus and other oculomotor disturbances. Case report: A 3-year-old child, with penoscrotal hypos-padia, bifid scrotum, micrognathy, high palate, proeminent forehead, low nasal bridge, hypertelorism, epicanthus, low-set ears, clinodactyly, bifid spine, delayed motor develop-ment and anteriorly placed anus as manifestations of the Opitz syndrome (OMIM *145410). He presented also an alternating esotropia with crossed fixation (Ciancia's syndrome), associated with manifestations of a bilateral Duane's syndrome and a vertical deviation (L/R), possibly due to dissociated actions between the RSR and the palpebral muscles of the right eye. The child died after a surgery for an anorectal reconstruction. Discussion: Although presenting ocular manifestations, there are no papers referring to the Opitz syndrome in ophthalmological publications. Those which mention strabismus have no proper descriptions of the ocular motility conditions. The present case showed important oculomotor dissociations, but their causes could not be clarified, due to the premature death of the child.

Opitz syndrome; Strabismus


Conselho Brasileiro de Oftalmologia Rua Casa do Ator, 1117 - cj.21, 04546-004 São Paulo SP Brazil, Tel: 55 11 - 3266-4000, Fax: 55 11- 3171-0953 - São Paulo - SP - Brazil
E-mail: abo@cbo.com.br