title: Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.
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.
authors.affiliation: ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: M
authors.initials: M
authors.lastname: Martín
authors.forename: M
authors.initials: M
authors.lastname: Pardo
authors.forename: F
authors.initials: F
authors.lastname: Fernandez de las Heras
authors.forename: J L
authors.initials: JL
authors.lastname: Frías
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome