PMC3142776_01
(a) The proband appeared short, obese, and face round. (b) The proband's hands. (c) The proband's feet. (d) Feet of the proband's mother. (e) An X-ray of patient's right hand showing that her metacarpals and phalanges are generally shortened. The both ends of the twice-fifth metacarpals are enlarged. The first distal phalanx, twice-fifth middle phalanges and twice-fifth distal phalanges are thickened. (f) The X-ray of the patient's right foot showing that her metatarsus and phalanges are generally shortened, especially the first metatarsus and phalanx. The distal ends of the first metatarsus, first phalanx, and twice-fifth phalanges are enlarged. The proximal ends of the first phalanx and twice-fifth phalanges are widened. (g) The feet of the patient's mother looked normal; however, an X-ray of her right foot showed that she had a similar, but less severe, phenotype to her daughter.
IJE2011-509549.001.jpg
PMC3142776_01_IJE2011-509549.001.jpg
fig1
At this time, she showed features of AHO: round face, short stature, and overweight (65 kg, height 142 cm), resulting in an abnormal body mass index (32.25 kg/m2) (Figure 1(a)). In addition, she also showed brachymetacarpia (Figures 1(b) and 1(e)) and brachymetatarsia (Figures 1(c) and 1(f)).  Her mother showed features of slight AHO, such as a round face, short stature, and slight brachymetatarsia (Figure 1(g)).