title: Ocular findings in triploidy.
abstract: We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and ambiguous genitalia. Ocular abnormalities included hypotelorism, blepharophimosis, microcornia, iris coloboma, cataract, persistent hyaloid vasculature, retinal dysplasia, and optic atrophy. A 16-year-old girl with triploid mosaicism had congenital left facial and body hemiatrophy, both growth and mental retardation, left-sided grand mal seizures, incontinentia pigmenti of both legs, partial syndactyly, and generalized weakness. Results of her ocular examination were within normal limits. A 13-year-old boy with triploid mosaicism exhibited both growth and mental retardation, truncal obesity, and required a brace to support his back. Ocular findings included synophrys, bilateral blepharoptosis, and abnormal results of Schirmer tear test. Studies indicate a wide spectrum of ocular and systemic abnormalities occur that are presumably associated with the chromosome error.
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D002386:Cataract / Q000151:congenital; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003103:Coloboma; D003315:Cornea / Q000002:abnormalities; D005124:Eye Abnormalities; D005143:Eyelids / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D007498:Iris / Q000002:abnormalities; D008297:Male; D009896:Optic Atrophy / Q000151:congenital; D011123:Polyploidy; D012160:Retina / Q000002:abnormalities