Case Report

Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient

Figure 1

Clinical pictures. (A, B) Triangular face with prominent cheekbones, retromicrognathia, protruding external ears, short neck, pectus carinatum, protruding abdomen, shortening of limbs, and knock knee. (C, D) Pes cavus foot and brachydactyly.
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