Ophthalmic manifestations of Wolf-Hirschhorn syndrome.

Wu-Chen, Wen Y; Christiansen, Stephen P; Berry, Susan A; Engel, W Keith; Fray, Katherine J; Summers, C Gail

Wu-Chen, Wen Y; Christiansen, Stephen P; Berry, Susan A; Engel, W Keith; Fray, Katherine J; Summers, C Gail.

Afiliación

Wu-Chen WY; Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USA.

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

Article en En | MEDLINE | ID: mdl-15314595

RESUMEN

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.

Asunto(s)

Anomalías Múltiples/genética; Deleción Cromosómica; Cromosomas Humanos Par 4/genética; Anomalías Craneofaciales/genética; Anomalías del Ojo/genética; Discapacidad Intelectual/genética; Microcefalia/genética; Anomalías Múltiples/diagnóstico; Niño; Preescolar; Anomalías del Ojo/diagnóstico; Femenino; Cardiopatías Congénitas/genética; Humanos; Lactante; Masculino; Síndrome

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 4 / Anomalías del Ojo / Deleción Cromosómica / Anomalías Craneofaciales / Discapacidad Intelectual / Microcefalia Tipo de estudio: Diagnostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J AAPOS Asunto de la revista: OFTALMOLOGIA / PEDIATRIA Año: 2004 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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