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. Author manuscript; available in PMC: 2013 Apr 4.
Published in final edited form as: Nat Genet. 2012 Jul 8;44(8):922–927. doi: 10.1038/ng.2349

Figure 1. Phenotypic characteristics of patients with TGFB2 mutation.

Figure 1

Significant clinical features of individuals with TGFB2 mutations include mild hypertelorism (widely spaced eyes; 1-II:1, 3-III:1 and 7-III:1), malar hypoplasia (flat cheek bones;1-II:1,3-III:1, 4-II:1 and 7-III:1), retrognathia (receding chin; 1-II:1, 3-III:1, 4-II:1 and 7-III:1), arachnodactyly (long fingers; 1-II:1 and 4-II:1), pectus excavatum (7-III:1), pes planus (flat feet; 1-II:1 and 3-III:1) and hammer toes (1-II:1). Permission to publish photographs was obtained from the affected individuals or their parents.