Published Date: January 16, 1995

Full Text Article

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

Authors: M L Martínez-Frías, M Martín, M Pardo, F Fernandez de las Heras, J L Frías

Am J Med Genet. 1995 Jan 16;55(2):213-6. doi: 10.1002/ajmg.1320550212.


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.

PMID: 7717420DOI: 10.1002/ajmg.1320550212