Pai Syndrome: First reported case in Qatar and review of literature

摘要

Pai Syndrome was first described in 1987 as a constellation of three developmental anomalies: i) complete median cleft palate, ii) cutaneous polyps and iii) midline lipomas of the central nervous system.(1) Since then, eighteen cases have been reported by Pai et al,(1) Preece et al,(2) Morgan and Evans,(3) Rudnikschoneborn and Zerres,(4) Mishima et al,(5) Al Mazrou et al,(6) Coban et al,(7), Szeto et al,(8) Guion-Almeida et al,(9) and Castori et al,(10) Vaccarella et al,(11) Chousta et al,(12) and Ochoa et al(13) To our knowledge, this is the first case of Pai Syndrome to be reported in Qatar and the second case in a patient of Arabian descent. The aim of this paper is to describe the clinical presentation of a variant of Pai Syndrome including a novel ocular finding.