Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).
By using the Giemsa banding technique we identified three patients with chromosome deletion 4p-. All had anterior segment anomalies, exotropia, blepharoptosis, antimongoloid palpebral fissures, hypertelorism, and disk abnormalities. One patient (Case 1) had Rieger's anomaly. Some clinical features in patients with 4p- are similar to those in patients with chromosome deletion 5p-, cri-du-chat syndrome, although 4p- individuals do not have the distinctive cry. The ocular features which distinguish 4p- from other deletions include normal tearing, some degree of blepharoptosis, and the preponderance of anterior segment signs.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001399:Azure Stains; D001763:Blepharoptosis / Q000150:complications*; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities; D008297:Male; D011247:Pregnancy; D013285:Strabismus / Q000150:complications*; D013577:Syndrome
D001399:Azure Stains