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.
Martínez-Frías
M L
ML
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Martín
M
M
Pardo
M
M
Fernandez de las Heras
F
F
Frías
J L
JL
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