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Congenital arhinia: Molecular‐genetic analysis of five patients

15 Feb 2007

Abstract excerpt

Congenital arhinia, complete absence of the nose, is an extremely rare anomaly with unknown cause. To our knowledge, a total of 36 cases have been reported, but there has been no molecular-genetic study on this anomaly. We encountered a sporadic case of congenital arhinia associated with a de novo chromosomal translocation, t(3;12)(q13.2;p11.2). This led us to analyze the patient by BAC-based FISH for...

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PMID: 17304554
DOI: 10.1002/ajmg.a.31613

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