Fig. 1. Patient summary and imaging study.

a Pedigree: III-1, spontaneous termination of pregnancy; III-2, anencephaly, induced termination of pregnancy; III-4, anencephaly, cleft lip/palate, polydactyly, and induced termination of pregnancy. b, c Patient’s appearance at 6 months old. d Patient’s lobulated tongue, oral lingual nodules, and oral hamartomas at 6 months old. e, f Patient’s bilateral postaxial polydactyly of the hands at 6 months old. g, h Patient’s bilateral mesoaxial polydactyly of the feet at 6 months old. i–l Patient’s bilateral polydactyly of the hands i, j and feet k, l at 48 days imaged via radiography. m–o Patient’s lower limbs imaged via radiography [m, n: at 48 days, o at 14 months]. p, q Patient’s magnetic resonance imaging of the brain at 15 months showing cerebellar vermis hypoplasia and molar tooth sign.