Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).
Am J Ophthalmol, 1978/12;86(6):834-9.
Wilcox LM Jr, Bercovitch L, Howard RO
PMID: 104624
Impact factor: 5.488
Abstract
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.
MeSH terms
Abnormalities, Multiple; Adolescent; Adult; Azure Stains; Blepharoptosis; Chromosome Deletion; Chromosomes, Human, 4-5; Eye Abnormalities; Female; Humans; Infant; Iris; Male; Pregnancy; Strabismus; Syndrome
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