PMC9626241_01
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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She looks like a dysmorphic triangular face with a prominent check, a forehead, retromicrognathia, large ears, and skeletal deformities with mild pectus carinatum, short and broad hands with brachydactyly, kyphosis, knock knees, valgus tibial bowing, and pes cavus foot (Figures 1(a)-1(d)), and her height was 102 cm (2.9 SDs), weight was 16 kg, and head circumference was 48 cm below the third percentile.
Radiographies. (A, B) Diffuse osteopenia and tubular bones are short. Metaphyseal sclerosis and irregularities more pronounced in and sclerotic femoral heads. Right hip dislocation with external the lower limbs. (C, D) Right humerus bowing deformity. Small, fragmented rotation of the right lower limb. Bilateral coxa varus. Left genu valgus. Bowing deformity of the left tibia. Metacarpals and metatarsal are short.
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The radiological findings (Figures 2(a)-2(d)) coincided with the clinical findings.
Molecular study of the genomic DNA of patient detected MBTPS1.
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A) p. (Ser878Arg) variant of the MBTPS1 gene (Figure 3). An amino acid change from Ser to Arg at position 878.