Figures & data
Figure 1 Clinical and radiological features of patient 1: (A) short stature and facial profile; (B) small hand and short fingers; (C) delayed bone age and cone shaped epiphysis; (D) beak-like femoral heads.
Figure 2 Clinical and radiological features of patient 2 and patient 3: (A–D) The presence of small hands, but without joint contracture; (E–G) The images of the left hand, pelvis and vertebral column of patient 2 revealed shortened tubular bones in the hands and beak-like femoral heads.
Figure 3 A novel heterozygous missense mutation in exon 42 of the FBN1 gene, c.5272G>T (p.D1758Y), was found in patient 1.
Figure 4 A heterozygous missense mutation, c.5183C>T (p.A1728V), was detected in exon 42 in patient 2 and the patient’s father patient 3.
