Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs
| Autor: | C K Ho, R L Kaufman, S M Podos |
|---|---|
| Rok vydání: | 1975 |
| Předmět: |
Central Nervous System
Heart Defects Congenital Male Pediatrics medicine.medical_specialty genetic structures Heart disease Ocular Coloboma Iris Bone and Bones Genetics medicine Humans Abnormalities Multiple Genetics (clinical) Coloboma business.industry Genitourinary system Incidence (epidemiology) Urogenital Abnormality Anatomy medicine.disease eye diseases Urogenital Abnormalities Female sense organs business Research Article |
| Zdroj: | Journal of Medical Genetics. 12:289-293 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.12.3.289 |
| Popis: | An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal, and urogenital systems. Discovery of an ocular coloboma should alert the clinician to search for other abnormalities. |
| Databáze: | OpenAIRE |
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