title: Tetraphocomelia and neonatal amegakaryocytic thrombocytopenia.
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004480:Ectromelia / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008533:Megakaryocytes; D013577:Syndrome; D013921:Thrombocytopenia / Q000151:congenital / Q000235:genetics*