The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes

Figure 1

(a) Pedigree of P1 with her unaffected father, mother, and brother

(b) Hands of the P1

(c) Bone age in P1

(d) Skeletal X-ray of the hips in P1

(e) Growth chart of P1

(f) Photograph at the age of 9 years and 3 months

(g) Heterozygous FBN1 mutation c.5086T>G (p.Tyr1696Asp) in exon 42 in P1, brother (B1), mother (M), and father (F)