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Fig. 1 | Italian Journal of Pediatrics

Fig. 1

From: Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder

Fig. 1

Characteristic 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 halluces

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