Fig. 1: Ear dysplasia and limb malformations in 18 patients from 12 families in the present series. | European Journal of Human Genetics

Fig. 1: Ear dysplasia and limb malformations in 18 patients from 12 families in the present series.

From: Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

Fig. 1

Ear dysplasia consisted mainly of abnormally folded helix and auricular tag or pit (arrow) (patient F20P40 was considered unaffected for ear dysplasia). Upper limb malformations mainly included triphalangeal thumb (patients F1P1, F5P9, F6P10, F6P13, F13P26, F18P32, F18P34, F19P36), duplicated thumb (patients F4P7, F5P9, F6P13, F9P16, F18P32, F18P34, F20O47), broad thumb (patients F4P8 and F20P47) (patients F6P12 and F8P15 were considered unaffected for upper limb malformations).

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