Ocular manifestations of chromosome 14 terminal deletion.
A boy with chromosome 14 terminal (14q32.3) deletion presented with typical facial dysmorphism, mental retardation, and hypotonia. Ocular examination revealed esotropia, jerk nystagmus, microcornea, and retinal-choroidal colobomas. We report the first case of microcorneas and colobomas in association with chromosome 14 terminal deletion to help further define this clinical syndrome.
Chung
Ida
I
State University of New York, State College of Optometry, New York, New York, USA.
Chawla
Radhika
R
FitzGerald
David E
DE
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities / Q000000981:diagnostic imaging; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003103:Coloboma / Q000000981:diagnostic imaging / Q000235:genetics; D003315:Cornea / Q000002:abnormalities; D004948:Esotropia / Q000235:genetics*; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics*; D012160:Retina / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome; D014463:Ultrasonography