PMC4882113_01
Clinical photographs at 1 day of age (a, left) and 5 years 4 months of age (b, right). The infant photograph shows dramatic limb shortening as well as an apparently small thorax. At 5 and 4/12 years there is moderate rhizomelic limb shortening, particularly of the arms, without any other obvious unusual features.
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F1
At birth, short limbs were noted (Fig.1a).
Lower limb radiographs at (left to right) ages 1 day (a), 15 months (b), 5 years 4 months (c) and 8 years 4 months (d). Initially the long bones are short and broad, the femurs are curved and there is considerable metaphyseal flaring and irregularity consistent with a metaphyseal dysplasia. With increasing age the features become far less marked with much less bowing and far more subtle metaphyseal changes. By 8 4/12 years of age the metaphyseal changes are barely detectable.
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F2
Less marked shortening of all other long bones was noted (Fig. 2a). There was metaphyseal flaring with spicules and irregularity (Fig. 2b). Sequential radiographs showed progressive improvement of the metaphyseal changes and resolution of the spine anomalies (Figs. 2-4).
Upper limb radiographs at ages 1 day (a, upper left), 15 months (b, lower left), 4 years 2 months (c, upper right), 5 years 4 months (d, middle right) and 8 years 4 months (e, f, lower right). As in the legs (Fig. 2) initially there is marked shortening of the long bones with marked metaphyseal cupping of the distal radius and ulna; the ulna is abnormally bowed. There is irregularity of metaphyses. Here, too, changes become far less prominent with increasing age.
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F3
Ulnar metaphyses were cupped (Fig. 3a). Radial bow of the forearms persisted and the distal ulnar metaphyses were divided (Fig. 3b). Sequential radiographs showed progressive improvement of the metaphyseal changes and resolution of the spine anomalies (Figs. 2-4).
Lateral spine radiographs at ages 1 day (a, upper left), 15 months (b, upper right), 5 years 4 months (c, lower left) and 8 years 4 months (d, lower right). In infancy there is considerable platyspondyly with ovoid vertebral bodies. The ribs are also mildly shortened. Sequentially there is normalization of all of the vertebral features with only minimal thoracic platyspondyly apparent in (c) and apparent complete normalization in (d); radiograph (d) is somewhat overpenetrated.
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F4
Platyspondyly and ovoid vertebral bodies were present (Fig. 4a). The previous platyspondyly and ovoid vertebral bodies were far less evident (Fig. 4b). Sequential radiographs showed progressive improvement of the metaphyseal changes and resolution of the spine anomalies (Figs. 2-4).