title: An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?
abstract: We report on a 5-month-old female with large and widely spaced anterior and posterior fontanelles, aplasia cutis congenita, Tessier 3 oblique facial cleft, polydactyly, and syndactyly of toes. The polydactyly is unusual as an accessory finger is attached to the left fifth finger with mirrored, end-to-end fusion. We are naming this anomaly "polydactyly inversus." The infant appears to have a previously unreported syndrome of unknown cause.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Jessica
authors.initials: J
authors.lastname: Jackson
authors.forename: Paula
authors.initials: P
authors.lastname: Delk
authors.forename: Emily
authors.initials: E
authors.lastname: Farrow
authors.forename: Christopher
authors.initials: C
authors.lastname: Griffith
authors.forename: Melissa
authors.initials: M
authors.lastname: Lah
authors.forename: David D
authors.initials: DD
authors.lastname: Weaver
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D002971:Cleft Lip / Q000000981:diagnostic imaging*; D002972:Cleft Palate / Q000000981:diagnostic imaging*; D055762:Cranial Fontanelles / Q000002:abnormalities; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007223:Infant; D017689:Polydactyly / Q000000981:diagnostic imaging*; D011859:Radiography; D013576:Syndactyly / Q000000981:diagnostic imaging*; D013577:Syndrome; D016216:Ultrasonography, Prenatal
keywords: Tessier 3 oblique facial cleft; aplasia cutis congenita; large fontanelles; polydactyly inversus; toe syndactyly