PMC8498102_01
(A) Propositus: broad forehead with open metopic suture, pectus excavatum; (B) father: mediofrontal depression, ocular hypertelorism, malar hypoplasia; (C) father's hands: brachydactyly, brachytelephalangism, and broad thumbs.
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F1
Physical examination showed rapid breathing, positive three concave sign, obvious pectus excavatum, abnormal midfacial features, and large fontanelle (Figure 1A). His hands show brachydactyly, brachytelephalangism, and broad thumbs (Figures 1B,C).
(A) Chest x-ray of the propositus: cone-shaped chest, clavicular hypoplasia, enlarged shoulder joint space. (B) Chest x-ray of father: cone-shaped chest, fragmented clavicles, scoliosis. (C) Pelvic x-ray of father: narrow pelvis, with short femoral necks, and short pubic rami.
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F2
Conventional chest radiography showed hypoplastic clavicles and cone-shaped chest, with enlarged shoulder joint space (Figure 2A). The radiology of his father showed short and fragmented clavicles, a cone-shaped chest, and scoliosis (Figure 2B); narrow pelvis, with short femoral necks and short pubic rami (Figure 2C).
(A-C) Propositus skull CT, frontal, posterior, and lateral views: delayed ossification and wide-open sutures.
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F3
Three-dimensional CT of the baby showed large ossification defects in the skull (Figures 3A-C).
(A) Father's mutant RUNX2 gene; (B) baby's mutant RUNX2 gene; (C) mother's wild-type RUNX2 gene.
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F4
Arg190Trp), which was inherited from his father (Figure 4).