Trisomy di syndrome (trisomy 13; patau syndrome; reese syndrome) 1

General: Extra chromosome in the D group; fatal in first few months of life; trisomy 13-l5 re 343j95d sembles trisomy D1.

Ocular: Anophthalmia; microphthalmia; iris coloboma; cataracts; retinal dysplasia; optic nerve coloboma; optic atrophy; iris dysplasia; calcified lens; retinal detachment; optic nerve hypoplasia; orbital cysts.

Clinical: Apneic spells; developmental deficiency of nervous system; seizures (minor motor); deafness; cleft lip and palate; hemangiomata (capillary type); horizontal palmar creases; hyperconvex fingernails; interventricular septal defects; renal abnormalities; cardiovascular changes; respiratory involvement; gastrointestinal disease; urogenital involvement; cerebral hypoplasia with hydrocephalus; mental retardation.

Apple DJ, et al. Patau syndrome. Am J Ophthalmol 1970; 70:383.

Cogan DG, Kuwabara T. Ocular pathology of the 13-l5 trisomy syndrome. Arch Ophthalmol 1964; 72:246.

Ginsberg J, Bove KE. Ocular pathology of trisomy 13. Ann Ophthalmol 1974; 6:113.

Kukharenko V: et al. Down's syndrome, Edward's syndrome, Patau's syndrome-synthesis of glycosaminoglycans. Hum Genet 1994; 94:80-82.