Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression
Hardikar syndrome: A new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis
β Scribed by Cools, F.; Jaeken, J.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 9 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970905)71:4<472::aid-ajmg19>3.0.co;2-d
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