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Martínez-Frías, M.L. et al.

Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.

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.[1]

References

Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. Martínez-Frías, M.L., Martín, M., Pardo, M., Fernandez de las Heras, F., Frías, J.L. Am. J. Med. Genet. (1995) [Pubmed]

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