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Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst
  1. R Gershoni-Baruch1,
  2. I Machoul2,
  3. Y Weiss2,
  4. S Blazer2
  1. 1Division of Clinical Genetics, Department of Paediatrics A, Rambam Medical Centre, PO Box 9602, 31096 Haifa, Israel.
  2. Department of Neonatology, Rambam Medical Centre, Haifa, Israel.

    Abstract

    We present a male infant with a giant omphalocele, diaphragmatic hernia, hepatic cyst, bilateral radioulnar synostosis, absent left thumb, and triphalangeal right thumb.

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