Chromosome 18 Partial Deletion (Long-Arm) Syndrome
(Monosomy 18 Partial [Long-Arm] Syndrome;
De Grouchy Syndrome) 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 626d38g 246
General: Deletion of approximately one half of the long arm of chromosome 18.
Ocular: Hypertelorism; epicanthal folds; narrow palpebral fissure; nystagmus (horizontal); strabismus; myopia; astigmatism; glaucoma; oval pupils; microcornea; posterior staphyloma; oblique disk; optic nerve staphyloma; optic nerve atrophy; microphthalmia; corneal opacities; iris hypoplasia; corectopia.
Clinical: Dwarfism; mental retardation; microcephaly; midface dysplasia; prominent antihelix and antitragus; congenital cardiac disease; abnormal, spindle-shaped fingers; genital defects.
de Grouchy J, et al. Deletion Partielle des Bras Longs du Chromosome 18. Pathol Biol (France) 1964; 12:579.
Ginsberg J, et al. Ocular manifestations in trisomy 18. Am J Ophthalmol
Izquierdo NJ, et al. Anterior segment malformations in 18q- (de Grouchy) syndrome. Ophthalmic Pediatr Genet 1993; 14:91-94.
Levenson JE, et al. Partial deletion syndromes of chromosome 18. Ann Ophthalmol 1971; 3:756.
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