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Puzzling case help needed

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Puzzling case help needed

What is the diagnosis? 35 gestation weeks, IUGR, preterm gemini B babygirl has dyspnoe and multiplex fibroma around both ears. She is fed via nasogastric tube, because she can not swallow. She has peripapillary pigment ring, hepato-splenomegaly with abnormal ribs, vertebrae and spine morphology (X-ray attached). Other findings were normal. Her brother is well, he only has hydronephrosis on one side without any symptoms. Any suggestions are welcome.

Petra

Petra

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