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Clinical pictures at age of (a–d) 40 months and (e–g) 68 months. Note coarse face with severe retromicrognathia, thick and prominent lips, wide mouth commissure, broad forehead with thick and salient supraorbital region, and protruding external ears. Other features include short neck, pectus carinatum, large and protruding abdomen, shortening of limbs (more evident in upper extremities), but normal aspect of hands and feet [Color figure can be viewed at wileyonlinelibrary.com]
