PMC3615938_01
The whole body view of new-born infant with very short limbs, narrow chest, exaggerated the protuberance of abdomen and large head.
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We detected atypical facial findings of the newborn infant (Figure 1) - low-set ears, flat face, short neck and small mouth.
Anteroposterior radiograph of new-born infant with medial acetabula spurs, hypo plastic iliac bones, bowed femora with rounded protrusion of proximal femur, hypo plastic thorax and wafer-thin vertebral bodies.
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Skeletal radiography showed the presence of medial acetabula spurs, hypoplastic iliac bones, bowed femora with rounded protrusion of the proximal femur, hypoplastic thorax and wafer-thin vertebral bodies (Figure 2).
Partial metaphase figures showing chromosomal abnormalities.
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Standard cytogenetic techniques were used for harvesting and slide preparation (Figure 3).