PP414 : Shprintzen Goldberg Syndrome: distinct strabismus pattern with bilateral MR aplasia

Dr.Shweta

Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis along with craniofacial, cardiovascular, neurologic and skeletal anomalies. Though strabismus has been mentioned as a finding, it has never been described in detail so far in literature. So we aimed to retrospectively report and analyse 2 rare patients of SGS syndrome with exotropia. Both patients had sagittal craniosynostosis, frontal bossing, malar flattening, micrognathia. arachnodactyly, operated hernia, pectus carinatum, high narrow palate, mental retardation. Both had similar finding of large angle A-exotropia with adduction deficit and bilateral Superior oblique (SO) overaction. Surprisingly both patients had absent Medial Rectus in both eyes intraoperatively. In both cases partial vertical recti transposition and SO weakening procedure was done. To conclude SGS patients often presents with large angle exotropia with MR aplasia which should be managed carefully avoiding anterior segment ischemia.