title: New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis.
abstract: To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1).
authors.affiliation: Istituto Materno Infantile, Università di Palermo, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Giuffrè
authors.forename: G
authors.initials: G
authors.lastname: Corsello
authors.forename: M
authors.initials: M
authors.lastname: Giuffrè
authors.forename: M
authors.initials: M
authors.lastname: Piccione
authors.forename: A
authors.initials: A
authors.lastname: Albanese
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013484:Supination; D013577:Syndrome; D013580:Synostosis / Q000235:genetics*; D014457:Ulna / Q000002:abnormalities*