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. 2019 Jun 13;105(1):108–121. doi: 10.1016/j.ajhg.2019.05.011

Figure 2.

Figure 2

Radiographic Skeletal Findings

(A) Proband 1: 15-month-old male with beaking of several lower thoracic and upper lumbar spine vertebrae (black arrows) with a hypoplastic T12 vertebra (white arrow) and platyspondyly of the thoracic vertebrae (asterisks). The acetabula are mildly shallow (white arrowheads) with an asymmetrically small right femoral head epiphysis. Dense metaphyseal bands were also noted in the long bones (black arrowheads).

(B) Proband 2: 7-year-old female. Lateral radiograph of the spine shows anterior beaking of lower thoracic and lumbar vertebra (black arrows). Frontal pelvic radiograph shows mild irregularity of the acetabular rims (white arrowheads), as well as decreased spherical contour of the femoral head epiphyses (black arrowheads).

(C) Proband 3: 8-year-old female. Lateral radiograph of the spine shows findings of mild anterior vertebral irregularity and beaking of lower thoracic and upper lumbar vertebrae (black arrows), with mild hypoplasia of the anterior aspects of L2 and L5 vertebrae (white arrowheads). Frontal pelvic radiograph shows the femoral head epiphyses to be flattened medially (black arrowheads) with decreased spherical contour, which may be due to an unusually large fovea capitis.