PMC3504267_01
Marked craniofacial deformities.
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Extraoral examination at 4 years of age revealed marked craniofacial deformities including prominent triangular head, extremely large forehead, alopecia, hypoplastic zygomatic arches, constantly open eyes, due to the absence of eyelids, requiring the continuous need for eye drops, rudimentary eyelids, no eyelashes nor eyebrows (Figure 1).
Hypoplastic ears fused to head, underdeveloped nose, and macrostomia.
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Hypoplastic ears fused to head, underdeveloped nose, and macrostomia (Figures 2(a) and 2(b)).
Severe contracture of the left elbow.
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He showed limited finger motion, as well as severe contracture of the left elbow, due to the tightness of the scarred skin (Figure 3).
Generalized.
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