Fig. 1From: Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorderCharacteristic features of the IRF6-related disorder at birth. a Broad nasal bridge, thin lips, mild retrognathia and numerous oral synechiae. b Lateral view of low-set malformed ears. c Hypertrophy of clitoris and hypoplasia of the labia majora. d Bilateral cutaneous syndactyly of II and III toes, cutaneous syndactyly of IV and V right toes, excessive subcutaneous tissue on the dorsum of the II right toe (resembling a plantar aspect), and pyramidal skinfold overlying the nails of both hallucesBack to article page