Format

Send to

Choose Destination
J AAPOS. 2004 Aug;8(4):345-8.

Ophthalmic manifestations of Wolf-Hirschhorn syndrome.

Author information

1
Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USA.

Abstract

PURPOSE:

Wolf-Hirschhorn syndrome is caused by partial deletion of the short arm of chromosome 4 (4p-). Common features include developmental delay, microcephaly, seizures, craniofacial anomalies, mental retardation, and cardiac defects. This article further describes the ocular manifestations of this rare disorder.

METHODS:

Charts of patients with 4p- from the University of Arkansas (n = 3) and the University of Minnesota (n = 7) were reviewed. Diagnosis was made by a geneticist and was confirmed by karyotype. Cytogenetic reports were available for review in eight patients.

RESULTS:

Ten patients (six females and four males) aged 4 months to 11 years were included. Ophthalmic findings included exodeviation (9/10), nasolacrimal obstruction (6/10), shallow orbits (3/10), epicanthal folds (3/10), foveal hypoplasia (3/10), upper lid coloboma (2/10), optic disk anomalies (2/10), downslanting palpebral fissures (2/10), microcornea (2/10), hypertelorism (1/10), nystagmus (1/10), and chorioretinal coloboma (1/10). Eight patients with 4p- had break points ranging from band 4p14 to 4p16.3.

CONCLUSIONS:

This study expands on previous reports of the ophthalmic phenotype in 4p- and includes the additional findings of foveal hypoplasia, nystagmus, shallow orbits, epicanthal folds, and upper lid colobomas. Ophthalmic findings in 4p- are variable, likely related to the size of the deletion.

PMID:
15314595
DOI:
10.1016/S1091853104000916
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center