Correspondence: Further studies on a kindred reported by Li 2009 as 'A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. from 'new syndrome' through EEC to ulnar mammary syndrome

摘要

The family reported by Li (2009) included multiple individuals affected with ankyloglossia and/or ulnar ray defects. Li postulated that this is a new syndrome. The proband (IV-2), his father (III-4), the paternal aunt (III-3), the paternal grandmother (II-2), and her niece (III-5) have also been assessed by us, and DNA analysis of the TBX3 gene was done on them. This showed a novel heterozygous TBX3 mutation, which we believe is the underlying cause for the phenotype.