Fig. 2From: Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected familyThe clinical symptoms of proband’family. A The proband showed short stature, barrel chest, kyphosis, slender fingers and other skeletal deformities. B The proband’s father showed similar symptoms to the proband; C The proband's sister had the mildest skeletal system abnormality,and from left to right is the proband, the proband's mother, the proband’s sister and the proband's fatherBack to article page