PMC3307213_01
Antenatal ultrasound image showing short femur (white arrow) and humerus (dashed arrow) with mataphyseal flaring.
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F1
Metaphyseal flaring with irregularity was observed in the long tubular bones of both the upper and lower extremities [Figure 1].
Antenatal ultrasound image showing bilateral club foot (white arrows).
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F2
Bilateral club foot was noted [Figure 2].
Antenatal ultrasound of the fetal spine showing severe platyspondyly (white arrow) with reduced mineralization of most of the posterior vertebral elements).
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F3
The fetal spine demonstrated severe platyspondyly with unossified posterior vertebral elements, suggestive of defective mineralization [Figure 3].
3D ultrasound image of the fetal face showing depressed nasal bridge (white arrow) and long philtrum (black arrow).
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F4
The 3D fetal face sonogram revealed a depressed nasal bridge and a long philtrum [Figure 4].
Clinical photograph of the infant showing flat mid face with depressed nasal bridge, flat nose with anteverted nares, long philtrum, short and narrow thorax, scoliosis, deformed extremities with enlarged joint regions, with contractures and restriction of joint movements, and bilateral club foot.
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F5
The postnatal infant examination [Figure 5] revealed a flat mid face, with a depressed nasal bridge, flat nose with anteverted nares, long philtrum, short and narrow thorax, scoliosis, deformed extremities, with enlarged joint regions, contractures and restriction of joint movements, and bilateral club foot.
Postnatal infantogram AP view. Short, dumbbell shaped, long, tubular bones with metaphyseal irregularities (white arrows) peripheral spurs (asterisks), rhizomelic dwarfism, ribs are short and thin, and show anterior and posterior cupping, long and thin clavicles, and small scapulae. Metaphyses of small tubular bones of the hands and feet, squared off without obvious flaring (black arrow), with normal length. Pelvis showing short broad iliac bones noted with caudally bump-like configuration (bordered by spurs) (arrowhead), and flattened acetabulae with medial spikes and narrow sacrosciatic notches (dashed arrow).
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F6
An infantogram showed [Figure 6] shortening of all the long tubular bones of the extremities predominantly affecting the proximal segments (rhizomelic type of dwarfism).
Lateral radiograph of the spine. Severe platyspondyly with increased intervertebral disk spaces noted involving the entire vertebral column. Bodies of the vertebrae appeared small and pear-shaped on lateral view, with more height anteriorly and tapering posteriorly.
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F7
A lateral radiograph of the spine revealed severe pear-shaped platyspondyly, with increased intervertebral disk spaces [Figure 7].