Ocular findings in a newborn with cri du chat syndrome.
A deletion of the short arm of chromosome No. 5 has been termed the cri du chat (cat cry) syndrome. We report the first ophthalmologic examination of a newborn infant with this syndrome. Multiple ophthalmic abnormalities were found, including hypertelorism, telecanthus, epicanthal folds, antimongoloid palpebral fissures, exotropia, optic atrophy, and tortuosity of the retinal vasculature. It is of interest that these changes are congenital and present at birth, rather than developmental. Although such individuals are usually so severely mentally retarded that no ophthalmologic intervention is indicated, there are rare exceptions, and each case must be judged individually. Ten percent to 15% of these children inherit the chromosomal abnormality from phenotypically normal parents. Chromosomes from each parent should therefore be evaluated for the purposes of genetic counseling.
D003410:Cri-du-Chat Syndrome; D005124:Eye Abnormalities; D005128:Eye Diseases / Q000151:congenital*; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D006972:Hypertelorism; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D007621:Karyotyping; D009896:Optic Atrophy / Q000151:congenital; D012171:Retinal Vessels / Q000002:abnormalities; D013285:Strabismus / Q000151:congenital