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  • Title: New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis.
    Author: Giuffrè L, Corsello G, Giuffrè M, Piccione M, Albanese A.
    Journal: Am J Med Genet; 1994 Jul 01; 51(3):266-9. PubMed ID: 8074157.
    Abstract:
    To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1).
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