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首页> 外文期刊>Indian journal of pediatrics >Cerebro-costo-mandibular syndrome: Pierre Robin sequence with rib dysplasia.
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Cerebro-costo-mandibular syndrome: Pierre Robin sequence with rib dysplasia.

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摘要

A female neonate born out of a non consanguineous marriage, at 37 weeks by normal delivery with birth weight of 3 kg, was referred from a peripheral centre for severe respiratory distress on day 13 of life. On examination, the neonate had signs of late onset sepsis in the form of marked respiratory distress, hyperthermia, poor skin perfusion and profound lethargy. Severe micrognathia with glossoptosis and arched palate was noted (Fig. 1). Chest radiograph revealed only ten pairs of ribs with ossification gaps in the posterior part of all the ribs (Fig. 2). Some of the ribs were caudally directed and costovertebral junctions were found to be abnormal. The lung fields were poorly aerated. The child was put on mechanical ventilator but expired after 12 h of hospital stay. A diagnosis of Cerebro-costo-mandibular syndrome (CCMS) was made based on the typical x-ray findings.

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