Figure 1 | Genetics in Medicine

Figure 1

From: Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

Figure 1

Photographs of Family 1 visualizing the affected individual and her unaffected parents and sister. (a) Frontal view of the patient at the ages of (1) 1 year, (2) 3 years, and (3) 7 years, showing typical features of Treacher Collins syndrome with microretrognathia, downslanting palpebral fissures, malar hypoplasia, right-ear dysplasia, and bilateral hearing loss. (b) Frontal view of her unaffected (1) father, (2) mother, and (3) sister. Written consent was obtained to publish photographs of all individuals shown herein.

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