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Figure1: Clinical features of EVC syndrome observed in patient: (a). Bilateral postaxial polydactyly of hands. Fingernails are short, hypoplastic and absent on both the sixth fingers are shown. (b). Bilateral shortening of the 4th and 5th metatarsal bones, hypoplastic fingernails are noted. (c) Genu valgum is seen (d) Patient showing hypodontia. Written consent for publication of photographs was obtained from the patient and family
Figure 2 : A detailed view of the EVC2 region where the novel homozygous variant [c.3533_3546del (p.Glu1178Glyfs*82)] was identified in our patient. EVC2 encodes a single-pass type 1 transmenbrane protein. The image shows an absence of the homozygous p.Glu1178Glyfs*82 variant in gnomAD. Figure image from Decipher.