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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.

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Thanks for posting an interesting case here!

Please also post it in the virtual NICU where we collect our IRL clinical case discussions, as soon as you have done so, I will send an email to all members about the case.

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