case_images: PMC3108079_01
case_images: (a) Side view of the face demonstrating protruded lower jaw and improper closure of the mouth. (b) Front view of the patient demonstrating macroglossia
case_images: AIAN-14-47-g001.jpg
case_images: PMC3108079_01_AIAN-14-47-g001.jpg
case_images: F0001
case_images: Impression of teeth on lateral lingual borders as well as incomplete jaw closure [Figure 1], fulfilled the criteria of macroglossia.
case_images: Agarose gel electrophoresis showing (arrow) absence of band in lane no. 15 when compared with normal control (lane no. 16) suggesting deletion involving exon 50
case_images: AIAN-14-47-g002.jpg
case_images: PMC3108079_01_AIAN-14-47-g002.jpg
case_images: F0002
case_images: A 271 bp deletion was observed in exon 50 with this method [Figure 2].