Fig. 1
From: FGFR1 variants contributed to families with tooth agenesis
Pedigrees and phenotypes in the families. a Pedigree of family 1. The proband (II:1) is a 9-year-old boy with NSTA. b Pedigree of family 2. The proband (III:3) is an 11-year-old boy with agenesis of eight permanent teeth, auricular dysplasia, hearing impairment and further findings of olfactory dysfunction. Square, male; circle, female; black, patient; arrow, proband. c–e Intra-oral photographs and panoramic radiographs of individuals from family 1. Schematic of congenitally missing teeth of proband and his mother. Asterisks and solid squares indicate the congenitally missing teeth. Max, maxillary; Mand, mandibular. f Photographs of the proband and father in family 2. (i) Frontal view, (ii) right profile and ear and (iii) left profile and ear. First- and third-degree microtia of the right and left ear, respectively. (iv) Mature cataract in the right eye of the father. g Pure-tone audiometry of the proband in family 2 following bone-conduction implantation, note normal hearing on the right ear and mild hearing loss on the left ear