PMC6280227_01
Typical dysmorphic facial features.
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The most prominent dysmorphic features were a pear-shaped nose, a thin upper lip with small lower jaw, prominent ears, and markedly thin and sparse blonde hair with rarefaction of the lateral eyebrows (Figure 1). The teeth examination was difficult because he wore dental braces to correct dental irregularities.
Symmetrical deformity of proximal interphalangeal joints of both hands.
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Clinical examination of his hands revealed isolated ulnar deviation of the second fingers and symmetrical deformity of proximal interphalangeal joints of both hands (Figure 2).
Feet abnormalities with short toes.
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(a) Cone-shaped epiphyses of the middle phalanges of the second digit of both hands and (b) magnification of the cone-shaped epiphyses.
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Cone-shaped epiphyses with shortness of the toes.
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