Summary
Aplasia of intercalary bones of the upper and lower limbs associated with neonatal deficiency of platelets and anemia is described in a male infant. This case is considered to be a variety of the (autosomal recessive) syndrome of aplasia of the radii and amegakaryocytic thrombocytopenia.
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Pfeiffer, R.A., Maintz, G. & Haneke, C. Tetraphocomelia and neonatal amegakaryocytic thrombocytopenia. Hum Genet 17, 175–178 (1973). https://doi.org/10.1007/BF00277914
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DOI: https://doi.org/10.1007/BF00277914