PMC5143702_01
Facial features show bifrontal prominence, high forehead, left epicanthal fold, depressed and broad nasal bridge, upturned nares, prominent philtrum, thin upper lip, and bilateral low set ears.
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fig1
Facial examination revealed bifrontal prominence, high forehead, left epicanthal fold, depressed and broad nasal bridge, upturned nares, prominent philtrum, thin upper lip, posterior cleft palate, and bilateral low set ears (Figure 1).
Left upper limb, short left forearm, absent thumb, ulnar deviation at wrist, and contracture of fingers at PIP joint.
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fig2
Limb examination detected shortening of left forearm, absent thumb, ulnar deviation at wrist and contracture of 1st, 2nd, and 3rd fingers at PIP joints of left hand (Figure 2), and rudimentary thumb with contracture at proximal phalangeal joint of fingers of right hand.
X-rays left hand: absent radius with absent thumb bone.
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fig3
X-ray hands were detected with absent radius and with absent thumb bone on left side (Figure 3).