Anterior segment malformations in 18q- (de Grouchy) syndrome.
The authors examined two patients with deletions of the terminal end of the long arm of chromosome 18. The ocular findings in one patient with 46, XX, del 18 (q21) consisted of hypertelorism, epicanthus, strabismus, myopia, microphthalmia, microcornea, corneal opacities, iris hypoplasia with full thickness defects, corectopia and large peripapillary staphylomata. The second patient with 46, XX, del (18) (pter --> q21.2 :: q22 --> qter), inv (21) (q21 --> p12 :: q21 --> qter) only had epicanthus, strabismus, myopia and peripapillary crescents. Based on the findings in these two patients and on a review of previously reported patients with del 18 qter it appears that the loss of band 18q23 may be responsible for malformations of the anterior segment in the 18q-syndrome.
Izquierdo
N J
NJ
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, Baltimore, MD.
Maumenee
I H
IH
Traboulsi
E I
EI
D000869:Anterior Eye Segment / Q000002:abnormalities*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping