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  • Title: Newly recognized autosomal recessive MCA/MR/overgrowth syndrome.
    Author: Richieri-Costa A, Guion-Almeida ML, Cohen MM.
    Journal: Am J Med Genet; 1993 Aug 15; 47(2):278-80. PubMed ID: 8213920.
    Abstract:
    We report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome.
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