Figure 1.

Clinical manifestation and family tree of the patient with Larsen syndrome. Whole spine X-ray and cervical spine X-ray revealed severe scoliosis (A) and cervical kyphosis with dysplasia of C4 and C5 vertebrae (B); hand and carpal joint X-ray showed supernumerary carpal bones and spatulate thumb; there should be eight carpal bones in a normal wrist while thirteen carpal bones were found in the wrist of this patient (C); gross anatomical pictures revealed serious back curves, short stature and varus deformities of elbow on both sides (D); The father (III2), uncle (III1), grandfather (II1) and great-grandfather (I1) had unusual faces, spatulatA FLNB missense mutatione distal phalanges and varus deformities in both elbows similar to the patient (IV1) (E); A FLNB missense mutation (NM_001457.3, c.4756G>A (p.Gly1586Arg)) was identified in both the patient and his father, and was not found in the mother and sister (F).