An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?

Am J Med Genet A. 2015 Apr;167A(4):683-7. doi: 10.1002/ajmg.a.36927. Epub 2015 Feb 23.


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.

Keywords: Tessier 3 oblique facial cleft; aplasia cutis congenita; large fontanelles; polydactyly inversus; toe syndactyly.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Cleft Lip / diagnostic imaging*
  • Cleft Palate / diagnostic imaging*
  • Cranial Fontanelles / abnormalities
  • Ectodermal Dysplasia / diagnostic imaging*
  • Female
  • Humans
  • Infant
  • Polydactyly / diagnostic imaging*
  • Radiography
  • Syndactyly / diagnostic imaging*
  • Syndrome
  • Ultrasonography, Prenatal