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  • Title: Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.
    Author: Martínez-Frías ML, Martín M, Pardo M, Fernandez de las Heras F, Frías JL.
    Journal: Am J Med Genet; 1995 Jan 16; 55(2):213-6. PubMed ID: 7717420.
    Abstract:
    We report on 3 members of a Spanish family with partial aphalangia, syndactyly with duplication of metatarsal IV, microcephaly, dull intelligence, and short stature. The MCA pattern observed in this family appears to constitute a previously undescribed syndrome.
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