Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6
| Autor: | Dunn Mw, Margolis S, Ritch R, Levin H, Teekhasaenee C, Barathur R |
|---|---|
| Rok vydání: | 1986 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Congenital glaucoma Ring chromosome Glaucoma Iris Biology Rieger anomaly Maldevelopment medicine Humans Abnormalities Multiple Ring Chromosomes Uvea Genetics (clinical) Chromosome Aberrations Infant Anatomy medicine.disease eye diseases Hydrocephalus medicine.anatomical_structure Aniridia Chromosomes Human Pair 6 sense organs |
| Zdroj: | American journal of medical genetics. 25(2) |
| ISSN: | 0148-7299 |
| Popis: | A premature infant with unilateral aniridia and congenital ectropion uveae, contralateral Rieger anomaly, bilateral congenital glaucoma, and hydrocephalus was found to have ring chromosome 6. The findings are consistent with multiple manifestations of a neural crest-derived maldevelopment of the anterior segment and central nervous system. Comparison with the 14 previously reported cases of ring chromosome 6 illustrates the phenotypic variability of this syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text