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

Figure 2

(a) Pedigree of P2 with his unaffected father and mother

(b) Photograph at the age of 4 years

(c) Growth chart in P2

(d) Bone age in P2

(e) Heterozygous FBN1 mutation c.5243G>C (p.Cys1748Ser) in exon 43 in P2, mother (M), and father (F)